{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T14:56:59Z","timestamp":1792681019210,"version":"4.5.0"},"reference-count":215,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2021,4,21]],"date-time":"2021-04-21T00:00:00Z","timestamp":1618963200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Bone development is a tightly regulated process. Several integrated signaling pathways including HH, PTHrP, WNT, NOTCH, TGF-\u03b2, BMP, FGF and the transcription factors SOX9, RUNX2 and OSX are essential for proper skeletal development. Misregulation of these signaling pathways can cause a large spectrum of congenital conditions categorized as skeletal dysplasia. Since the signaling pathways involved in skeletal dysplasia interact at multiple levels and have a different role depending on the time of action (early or late in chondrogenesis and osteoblastogenesis), it is still difficult to precisely explain the physiopathological mechanisms of skeletal disorders. However, in recent years, significant progress has been made in elucidating the mechanisms of these signaling pathways and genotype\u2013phenotype correlations have helped to elucidate their role in skeletogenesis. Here, we review the principal signaling pathways involved in bone development and their associated skeletal dysplasia.<\/jats:p>","DOI":"10.3390\/ijms22094321","type":"journal-article","created":{"date-parts":[[2021,4,21]],"date-time":"2021-04-21T12:47:07Z","timestamp":1619009227000},"page":"4321","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":70,"title":["Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia"],"prefix":"10.3390","volume":"22","author":[{"given":"Alessandra","family":"Guasto","sequence":"first","affiliation":[{"name":"Imagine Institute, Universit\u00e9 de Paris, Clinical Genetics, INSERM UMR 1163, Necker Enfants Malades Hospital, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2839-9856","authenticated-orcid":false,"given":"Val\u00e9rie","family":"Cormier-Daire","sequence":"additional","affiliation":[{"name":"Imagine Institute, Universit\u00e9 de Paris, Clinical Genetics, INSERM UMR 1163, Necker Enfants Malades Hospital, 75015 Paris, France"},{"name":"Centre de R\u00e9f\u00e9rence Pour Les Maladies Osseuses Constitutionnelles, Service de G\u00e9n\u00e9tique Clinique, AP-HP, H\u00f4pital Necker-Enfants Malades, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,4,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1002\/1097-0177(2000)9999:9999<::AID-DVDY1073>3.0.CO;2-F","article-title":"Cranial Sutures as Intramembranous Bone Growth Sites","volume":"219","author":"Opperman","year":"2000","journal-title":"Dev. Dyn."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1242\/dev.105536","article-title":"A Pathway to Bone: Signaling Molecules and Transcription Factors Involved in Chondrocyte Development and Maturation","volume":"142","author":"Kozhemyakina","year":"2015","journal-title":"Development"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"a008334","DOI":"10.1101\/cshperspect.a008334","article-title":"Development of the Endochondral Skeleton","volume":"5","author":"Long","year":"2013","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"2393","DOI":"10.1002\/ajmg.a.61366","article-title":"Nosology and Classification of Genetic Skeletal Disorders: 2019 Revision","volume":"179","author":"Mortier","year":"2019","journal-title":"Am. J. Med. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"3059","DOI":"10.1101\/gad.938601","article-title":"Hedgehog Signaling in Animal Development: Paradigms and Principles","volume":"15","author":"Ingham","year":"2001","journal-title":"Genes Dev."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1038\/nrm3598","article-title":"The Mechanisms of Hedgehog Signalling and Its Roles in Development and Disease","volume":"14","author":"Briscoe","year":"2013","journal-title":"Nat. Rev. Mol. Cell. Biol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"61","DOI":"10.3389\/fphys.2013.00061","article-title":"A Review of Hedgehog Signaling in Cranial Bone Development","volume":"4","author":"Pan","year":"2013","journal-title":"Front. Physiol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1038\/383407a0","article-title":"Cyclopia and Defective Axial Patterning in Mice Lacking Sonic Hedgehog Gene Function","volume":"383","author":"Chiang","year":"1996","journal-title":"Nature"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/0092-8674(95)90398-4","article-title":"Long-Range Sclerotome Induction by Sonic Hedgehog: Direct Role of the Amino-Terminal Cleavage Product and Modulation by the Cyclic AMP Signaling Pathway","volume":"81","author":"Fan","year":"1995","journal-title":"Cell"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1242\/dev.00397","article-title":"A Zone of Frontonasal Ectoderm Regulates Patterning and Growth in the Face","volume":"130","author":"Hu","year":"2003","journal-title":"Development"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1101\/gad.1190304","article-title":"Hedgehog Signaling in the Neural Crest Cells Regulates the Patterning and Growth of Facial Primordia","volume":"18","author":"Jeong","year":"2004","journal-title":"Genes Dev."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1016\/0092-8674(93)90626-2","article-title":"Sonic Hedgehog Mediates the Polarizing Activity of the ZPA","volume":"75","author":"Riddle","year":"1993","journal-title":"Cell"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1242\/dev.127.3.543","article-title":"Indian Hedgehog Coordinates Endochondral Bone Growth and Morphogenesis via Parathyroid Hormone Related-Protein-Dependent and -Independent Pathways","volume":"127","author":"Karp","year":"2000","journal-title":"Development"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"2977","DOI":"10.1242\/dev.129.12.2977","article-title":"PTHrP and Indian Hedgehog Control Differentiation of Growth Plate Chondrocytes at Multiple Steps","volume":"129","author":"Kobayashi","year":"2002","journal-title":"Development"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1126\/science.273.5275.663","article-title":"PTH\/PTHrP Receptor in Early Development and Indian Hedgehog-Regulated Bone Growth","volume":"273","author":"Lanske","year":"1996","journal-title":"Science"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"4523","DOI":"10.1242\/dev.128.22.4523","article-title":"BMP and Ihh\/PTHrP Signaling Interact to Coordinate Chondrocyte Proliferation and Differentiation","volume":"128","author":"Minina","year":"2001","journal-title":"Development"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1126\/science.273.5275.613","article-title":"Regulation of Rate of Cartilage Differentiation by Indian Hedgehog and PTH-Related Protein","volume":"273","author":"Vortkamp","year":"1996","journal-title":"Science"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1734","DOI":"10.1172\/JCI24397","article-title":"Indian Hedgehog Stimulates Periarticular Chondrocyte Differentiation to Regulate Growth Plate Length Independently of PTHrP","volume":"115","author":"Kobayashi","year":"2005","journal-title":"J. Clin. Investig."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"2072","DOI":"10.1101\/gad.13.16.2072","article-title":"Indian Hedgehog Signaling Regulates Proliferation and Differentiation of Chondrocytes and Is Essential for Bone Formation","volume":"13","author":"Hammerschmidt","year":"1999","journal-title":"Genes Dev."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"4339","DOI":"10.1242\/dev.02025","article-title":"Ihh Controls Cartilage Development by Antagonizing Gli3, but Requires Additional Effectors to Regulate Osteoblast and Vascular Development","volume":"132","author":"Hilton","year":"2005","journal-title":"Development"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.1242\/dev.01006","article-title":"Ihh Signaling Is Directly Required for the Osteoblast Lineage in the Endochondral Skeleton","volume":"131","author":"Long","year":"2004","journal-title":"Development"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1038\/ng1197-269","article-title":"Mutation in GLI3 in Postaxial Polydactyly Type A","volume":"17","author":"Radhakrishna","year":"1997","journal-title":"Nat. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/ng0393-241","article-title":"A Mouse Model of Greig Cephalopolysyndactyly Syndrome: The Extra-ToesJ Mutation Contains an Intragenic Deletion of the Gli3 Gene","volume":"3","author":"Hui","year":"1993","journal-title":"Nat. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1038\/352539a0","article-title":"GLI3 Zinc-Finger Gene Interrupted by Translocations in Greig Syndrome Families","volume":"352","author":"Vortkamp","year":"1991","journal-title":"Nature"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1038\/ng0397-266","article-title":"GLI3 Frameshift Mutations Cause Autosomal Dominant Pallister-Hall Syndrome","volume":"15","author":"Kang","year":"1997","journal-title":"Nat. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1111\/j.1399-0004.2005.00431.x","article-title":"Molecular Analysis of Non-Syndromic Preaxial Polydactyly: Preaxial Polydactyly Type-IV and Preaxial Polydactyly Type-I","volume":"67","author":"Fujioka","year":"2005","journal-title":"Clin. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1038\/ng577","article-title":"Mutations in IHH, Encoding Indian Hedgehog, Cause Brachydactyly Type A-1","volume":"28","author":"Gao","year":"2001","journal-title":"Nat. Genet."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.ajhg.2010.11.006","article-title":"Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis","volume":"88","author":"Klopocki","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1086\/303028","article-title":"Localization of a Gene for Syndactyly Type 1 to Chromosome 2q34-Q36","volume":"67","author":"Bosse","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1086\/374318","article-title":"Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips","volume":"72","author":"Hellemans","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1995","DOI":"10.1086\/302921","article-title":"A Minimalist Approach to Gene Mapping: Locating the Gene for Acheiropodia, by Homozygosity Analysis","volume":"66","author":"Escamilla","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"447","DOI":"10.3389\/fgene.2018.00447","article-title":"Clinical Genetics of Polydactyly: An Updated Review","volume":"9","author":"Umair","year":"2018","journal-title":"Front. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1111\/cge.12352","article-title":"Microduplications Encompassing the Sonic Hedgehog Limb Enhancer ZRS Are Associated with Haas-Type Polysyndactyly and Laurin-Sandrow Syndrome","volume":"86","author":"Lohan","year":"2014","journal-title":"Clin. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"5109","DOI":"10.1210\/endo.137.11.8895385","article-title":"Parathyroid Hormone-Related Peptide Delays Terminal Differentiation of Chondrocytes during Endochondral Bone Development","volume":"137","author":"Lee","year":"1996","journal-title":"Endocrinology"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/S1043-2760(01)00409-X","article-title":"Molecular Properties of the PTH\/PTHrP Receptor","volume":"12","author":"Gardella","year":"2001","journal-title":"Trends. Endocrinol. Metab."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"2090","DOI":"10.1210\/endo.132.5.8386606","article-title":"Cloned, Stably Expressed Parathyroid Hormone (PTH)\/PTH-Related Peptide Receptors Activate Multiple Messenger Signals and Biological Responses in LLC-PK1 Kidney Cells","volume":"132","author":"Bringhurst","year":"1993","journal-title":"Endocrinology"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"6882","DOI":"10.1074\/jbc.272.11.6882","article-title":"Mutations in the Second Cytoplasmic Loop of the Rat Parathyroid Hormone (PTH)\/PTH-Related Protein Receptor Result in Selective Loss of PTH-Stimulated Phospholipase C Activity","volume":"272","author":"Guo","year":"1997","journal-title":"J. Biol. Chem."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0378-1119(01)00798-3","article-title":"Parathyroid Hormone-Dependent Signaling Pathways Regulating Genes in Bone Cells","volume":"282","author":"Swarthout","year":"2002","journal-title":"Gene"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"14794","DOI":"10.1073\/pnas.0405091101","article-title":"Stimulatory G Protein Directly Regulates Hypertrophic Differentiation of Growth Plate Cartilage in Vivo","volume":"101","author":"Bastepe","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"13030","DOI":"10.1073\/pnas.95.22.13030","article-title":"The Parathyroid Hormone\/Parathyroid Hormone-Related Peptide Receptor Coordinates Endochondral Bone Development by Directly Controlling Chondrocyte Differentiation","volume":"95","author":"Chung","year":"1998","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1073\/pnas.98.1.160","article-title":"The Chondrogenic Transcription Factor Sox9 Is a Target of Signaling by the Parathyroid Hormone-Related Peptide in the Growth Plate of Endochondral Bones","volume":"98","author":"Huang","year":"2001","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/j.devcel.2010.09.008","article-title":"Zfp521 Is a Target Gene and Key Effector of Parathyroid Hormone-Related Peptide Signaling in Growth Plate Chondrocytes","volume":"19","author":"Correa","year":"2010","journal-title":"Dev. Cell."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/S1534-5807(02)00218-6","article-title":"The PTH\/PTHrP Receptor Can Delay Chondrocyte Hypertrophy in Vivo without Activating Phospholipase C","volume":"3","author":"Guo","year":"2002","journal-title":"Dev. Cell."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1210\/endo.136.2.7835276","article-title":"Expression of Parathyroid Hormone-Related Peptide and Its Receptor Messenger Ribonucleic Acids during Fetal Development of Rats","volume":"136","author":"Lee","year":"1995","journal-title":"Endocrinology"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1002\/(SICI)1097-4652(199601)166:1<94::AID-JCP11>3.0.CO;2-P","article-title":"Expression of Parathyroid Hormone-Related Protein in Cells of Osteoblast Lineage","volume":"166","author":"Suda","year":"1996","journal-title":"J. Cell. Physiol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.bone.2015.07.008","article-title":"Periosteal PTHrP Regulates Cortical Bone Remodeling During Fracture Healing","volume":"81","author":"Wang","year":"2015","journal-title":"Bone"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1007\/BF02388725","article-title":"A Case of Lethal Congenital Dwarfism with Accelerated Skeletal Maturation","volume":"15","author":"Blomstrand","year":"1985","journal-title":"Pediatr. Radiol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1007\/PL00008195","article-title":"Blomstrand Osteochondrodysplasia: Three Novel Cases and Histological Evidence for Heterogeneity","volume":"436","author":"Oostra","year":"2000","journal-title":"Virchows Arch."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1097\/00041552-199607000-00003","article-title":"Receptors for Parathyroid Hormone and Parathyroid Hormone-Related Peptide: From Molecular Cloning to Definition of Diseases","volume":"5","author":"Schipani","year":"1996","journal-title":"Curr. Opin. Nephrol. Hypertens."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/hmg\/ddi001","article-title":"Recessive Mutations in PTHR1 Cause Contrasting Skeletal Dysplasias in Eiken and Blomstrand Syndromes","volume":"14","author":"Duchatelet","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1016\/j.ajhg.2010.01.023","article-title":"Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E","volume":"86","author":"Klopocki","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/bonekey.2012.225","article-title":"Acrodysostosis Syndromes","volume":"1","author":"Silve","year":"2012","journal-title":"Bonekey Rep."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"E2328","DOI":"10.1210\/jc.2012-2326","article-title":"PRKAR1A and PDE4D Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance","volume":"97","author":"Linglart","year":"2012","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1056\/NEJM199005173222002","article-title":"Mutation in the Gene Encoding the Stimulatory G Protein of Adenylate Cyclase in Albright\u2019s Hereditary Osteodystrophy","volume":"322","author":"Patten","year":"1990","journal-title":"N. Engl. J. Med."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"8287","DOI":"10.1073\/pnas.87.21.8287","article-title":"Mutations of the Gs Alpha-Subunit Gene in Albright Hereditary Osteodystrophy Detected by Denaturing Gradient Gel Electrophoresis","volume":"87","author":"Weinstein","year":"1990","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1210\/jc.2009-0176","article-title":"Pseudohypoparathyroidism and GNAS Epigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients","volume":"95","author":"Mantovani","year":"2010","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1002\/jor.1100140221","article-title":"Activating Mutations of Gs Protein in Monostotic Fibrous Lesions of Bone","volume":"14","author":"Alman","year":"1996","journal-title":"J. Orthop. Res."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1688","DOI":"10.1056\/NEJM199112123252403","article-title":"Activating Mutations of the Stimulatory G Protein in the McCune-Albright Syndrome","volume":"325","author":"Weinstein","year":"1991","journal-title":"N. Engl. J. Med."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1038\/340692a0","article-title":"GTPase Inhibiting Mutations Activate the Alpha Chain of Gs and Stimulate Adenylyl Cyclase in Human Pituitary Tumours","volume":"340","author":"Landis","year":"1989","journal-title":"Nature"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.ajhg.2010.07.011","article-title":"Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems","volume":"87","author":"Williams","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"ref_61","first-page":"1269","article-title":"WNT and FGF Gene Clusters (Review)","volume":"21","author":"Katoh","year":"2002","journal-title":"Int. J. Oncol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"3205","DOI":"10.1242\/dev.033910","article-title":"Towards an Integrated View of Wnt Signaling in Development","volume":"136","author":"Nusse","year":"2009","journal-title":"Development"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"4262","DOI":"10.1128\/MCB.01779-08","article-title":"The Transcriptional Activity of Sox9 in Chondrocytes Is Regulated by RhoA Signaling and Actin Polymerization","volume":"29","author":"Kumar","year":"2009","journal-title":"Mol. Cell. Biol."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"27","DOI":"10.4248\/BR201301004","article-title":"A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt\/\u03b2-Catenin Signaling in Humans and Mice","volume":"1","author":"Maupin","year":"2013","journal-title":"Bone Res."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1242\/dev.023820","article-title":"Noncanonical Frizzled Signaling Regulates Cell Polarity of Growth Plate Chondrocytes","volume":"136","author":"Li","year":"2009","journal-title":"Development"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1242\/dev.00324","article-title":"Wnt5a and Wnt5b Exhibit Distinct Activities in Coordinating Chondrocyte Proliferation and Differentiation","volume":"130","author":"Yang","year":"2003","journal-title":"Development"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"3141","DOI":"10.1242\/dev.127.14.3141","article-title":"Dual Roles of Wnt Signaling during Chondrogenesis in the Chicken Limb","volume":"127","author":"Hartmann","year":"2000","journal-title":"Development"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1016\/j.devcel.2005.03.016","article-title":"Wnt\/Beta-Catenin Signaling in Mesenchymal Progenitors Controls Osteoblast and Chondrocyte Differentiation during Vertebrate Skeletogenesis","volume":"8","author":"Day","year":"2005","journal-title":"Dev. Cell."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1016\/j.devcel.2005.02.013","article-title":"Canonical Wnt\/Beta-Catenin Signaling Prevents Osteoblasts from Differentiating into Chondrocytes","volume":"8","author":"Hill","year":"2005","journal-title":"Dev. Cell."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1242\/dev.01564","article-title":"Sequential Roles of Hedgehog and Wnt Signaling in Osteoblast Development","volume":"132","author":"Hu","year":"2005","journal-title":"Development"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1924","DOI":"10.1359\/jbmr.070810","article-title":"Wnt10b Increases Postnatal Bone Formation by Enhancing Osteoblast Differentiation","volume":"22","author":"Bennett","year":"2007","journal-title":"J. Bone Miner. Res."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.bone.2018.06.018","article-title":"Novel WNT1 Mutations in Children with Osteogenesis Imperfecta: Clinical and Functional Characterization","volume":"114","author":"Lu","year":"2018","journal-title":"Bone"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1086\/382196","article-title":"Homozygous WNT3 Mutation Causes Tetra-Amelia in a Large Consanguineous Family","volume":"74","author":"Niemann","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/dvdy.22156","article-title":"WNT5A Mutations in Patients with Autosomal Dominant Robinow Syndrome","volume":"239","author":"Person","year":"2010","journal-title":"Dev. Dyn."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1136\/jmg.2003.014894","article-title":"Acropectorovertebral Dysgenesis (F Syndrome) Maps to Chromosome 2q36","volume":"41","author":"Thiele","year":"2004","journal-title":"J. Med. Genet."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1086\/506332","article-title":"Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi\/Raas-Rothschild\/Schinzel Phocomelia Syndrome","volume":"79","author":"Woods","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1016\/j.ejmg.2018.02.001","article-title":"Split Hand-Foot Malformation and a Novel WNT10B Mutation","volume":"61","author":"Kantaputra","year":"2018","journal-title":"Eur. J. Med. Genet."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"165","DOI":"10.3389\/fendo.2020.00165","article-title":"WNT Signaling and Bone: Lessons from Skeletal Dysplasias and Disorders","volume":"11","author":"Huybrechts","year":"2020","journal-title":"Front. Endocrinol."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"3399","DOI":"10.1093\/hmg\/ddv088","article-title":"A Mutation in FRIZZLED2 Impairs Wnt Signaling and Causes Autosomal Dominant Omodysplasia","volume":"24","author":"Saal","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1086\/303084","article-title":"Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 Cause Brachydactyly Type B","volume":"67","author":"Schwabe","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/humu.10233","article-title":"One Gene, Two Phenotypes: ROR2 Mutations in Autosomal Recessive Robinow Syndrome and Autosomal Dominant Brachydactyly Type B","volume":"22","author":"Afzal","year":"2003","journal-title":"Hum. Mutat."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.jbspin.2004.10.008","article-title":"LRP5 Mutations in Osteoporosis-Pseudoglioma Syndrome and High-Bone-Mass Disorders","volume":"72","author":"Levasseur","year":"2005","journal-title":"Jt. Bone Spine"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"1254","DOI":"10.1359\/JBMR.050303","article-title":"An Autosomal Dominant High Bone Mass Phenotype in Association with Craniosynostosis in an Extended Family Is Caused by an LRP5 Missense Mutation","volume":"20","author":"Kwee","year":"2005","journal-title":"J. Bone Miner. Res."},{"key":"ref_84","doi-asserted-by":"crossref","unstructured":"Korvala, J., J\u00fcppner, H., M\u00e4kitie, O., Sochett, E., Schnabel, D., Mora, S., Bartels, C.F., Warman, M.L., Deraska, D., and Cole, W.G. (2012). Mutations in LRP5 Cause Primary Osteoporosis without Features of OI by Reducing Wnt Signaling Activity. BMC Med. Genet., 13.","DOI":"10.1186\/1471-2350-13-26"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1002\/jbmr.2782","article-title":"A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone","volume":"31","author":"Fijalkowski","year":"2016","journal-title":"J. Bone Miner. Res."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/j.ejmg.2013.04.007","article-title":"Cenani-Lenz Syndrome Restricted to Limb and Kidney Anomalies Associated with a Novel LRP4 Missense Mutation","volume":"56","author":"Khan","year":"2013","journal-title":"Eur. J. Med. Genet."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1002\/ajmg.a.35920","article-title":"Severe Cenani-Lenz Syndrome Caused by Loss of LRP4 Function","volume":"161A","author":"Kariminejad","year":"2013","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1056\/NEJM200209193471216","article-title":"High Bone Density Due to a Mutation in LDL-Receptor-Related Protein 5","volume":"347","author":"Little","year":"2002","journal-title":"N. Engl. J. Med."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1359\/jbmr.090707","article-title":"Osteopathia Striata with Cranial Sclerosis Owing to WTX Gene Defect","volume":"25","author":"Perdu","year":"2010","journal-title":"J. Bone Miner. Res."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"3593","DOI":"10.1242\/dev.063610","article-title":"Notch Signaling: Simplicity in Design, Versatility in Function","volume":"138","author":"Andersson","year":"2011","journal-title":"Development"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"2799","DOI":"10.1101\/gad.836900","article-title":"A Common Enzyme Connects Notch Signaling and Alzheimer\u2019s Disease","volume":"14","author":"Kopan","year":"2000","journal-title":"Genes Dev."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.cell.2009.03.045","article-title":"The Canonical Notch Signaling Pathway: Unfolding the Activation Mechanism","volume":"137","author":"Kopan","year":"2009","journal-title":"Cell"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/j.bone.2009.05.027","article-title":"NOTCHing the Bone: Insights into Multi-Functionality","volume":"46","author":"Engin","year":"2010","journal-title":"Bone"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.1242\/dev.042911","article-title":"RBPjkappa-Dependent Notch Signaling Regulates Mesenchymal Progenitor Cell Proliferation and Differentiation during Skeletal Development","volume":"137","author":"Dong","year":"2010","journal-title":"Development"},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"14420","DOI":"10.1073\/pnas.0902306106","article-title":"Notch Pathway Regulation of Chondrocyte Differentiation and Proliferation during Appendicular and Axial Skeleton Development","volume":"106","author":"Mead","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"1875","DOI":"10.1073\/pnas.1207458110","article-title":"Notch Signaling in Chondrocytes Modulates Endochondral Ossification and Osteoarthritis Development","volume":"110","author":"Hosaka","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1002\/jbmr.1770","article-title":"Notch Gain of Function Inhibits Chondrocyte Differentiation via Rbpj-Dependent Suppression of Sox9","volume":"28","author":"Chen","year":"2013","journal-title":"J. Bone Miner. Res."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"2166","DOI":"10.1101\/gad.480408","article-title":"Noncyclic Notch Activity in the Presomitic Mesoderm Demonstrates Uncoupling of Somite Compartmentalization and Boundary Formation","volume":"22","author":"Feller","year":"2008","journal-title":"Genes Dev."},{"key":"ref_99","doi-asserted-by":"crossref","unstructured":"Ferjentsik, Z., Hayashi, S., Dale, J.K., Bessho, Y., Herreman, A., De Strooper, B., del Monte, G., de la Pompa, J.L., and Maroto, M. (2009). Notch Is a Critical Component of the Mouse Somitogenesis Oscillator and Is Essential for the Formation of the Somites. PLoS Genet., 5.","DOI":"10.1371\/journal.pgen.1000662"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1038\/74307","article-title":"Mutations in the Human Delta Homologue, DLL3, Cause Axial Skeletal Defects in Spondylocostal Dysostosis","volume":"24","author":"Bulman","year":"2000","journal-title":"Nat. Genet."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1038\/961","article-title":"The Mouse Pudgy Mutation Disrupts Delta Homologue Dll3 and Initiation of Early Somite Boundaries","volume":"19","author":"Kusumi","year":"1998","journal-title":"Nat. Genet."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"2642","DOI":"10.1101\/gad.930601","article-title":"Dynamic Expression and Essential Functions of Hes7 in Somite Segmentation","volume":"15","author":"Bessho","year":"2001","journal-title":"Genes Dev."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1086\/498879","article-title":"Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype","volume":"78","author":"Sparrow","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"3761","DOI":"10.1093\/hmg\/ddn272","article-title":"Mutation of Hairy-and-Enhancer-of-Split-7 in Humans Causes Spondylocostal Dysostosis","volume":"17","author":"Sparrow","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1038\/ejhg.2009.241","article-title":"Two Novel Missense Mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a Family with Spondylocostal Dysostosis","volume":"18","author":"Sparrow","year":"2010","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_106","unstructured":"Pakvasa, M., Haravu, P., Boachie-Mensah, M., Jones, A., Coalson, E., Liao, J., Zeng, Z., Wu, D., Qin, K., and Wu, X. (2020). Notch Signaling: Its Essential Roles in Bone and Craniofacial Development. Genes Dis., S2352304220300581."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1007\/s11914-013-0145-4","article-title":"Notch Signaling and Bone Remodeling","volume":"11","author":"Regan","year":"2013","journal-title":"Curr. Osteoporos. Rep."},{"key":"ref_108","doi-asserted-by":"crossref","unstructured":"Tu, X., Chen, J., Lim, J., Karner, C.M., Lee, S.-Y., Heisig, J., Wiese, C., Surendran, K., Kopan, R., and Gessler, M. (2012). Physiological Notch Signaling Maintains Bone Homeostasis via RBPjk and Hey Upstream of NFATc1. PLoS Genet., 8.","DOI":"10.1371\/journal.pgen.1002577"},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1038\/nm1716","article-title":"Notch Signaling Maintains Bone Marrow Mesenchymal Progenitors by Suppressing Osteoblast Differentiation","volume":"14","author":"Hilton","year":"2008","journal-title":"Nat. Med."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1038\/nm1712","article-title":"Dimorphic Effects of Notch Signaling in Bone Homeostasis","volume":"14","author":"Engin","year":"2008","journal-title":"Nat. Med."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1038\/ng.778","article-title":"Truncating Mutations in the Last Exon of NOTCH2 Cause a Rare Skeletal Disorder with Osteoporosis","volume":"43","author":"Isidor","year":"2011","journal-title":"Nat. Genet."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1007\/s11914-016-0311-6","article-title":"Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 Mutations","volume":"14","author":"Canalis","year":"2016","journal-title":"Curr. Osteoporos. Rep."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1002\/ajmg.a.37889","article-title":"Adams-Oliver Syndrome Review of the Literature: Refining the Diagnostic Phenotype","volume":"173","author":"Hassed","year":"2017","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/ajmg.a.61364","article-title":"Expanding the Phenotype in Adams-Oliver Syndrome Correlating with the Genotype","volume":"182","author":"Dudoignon","year":"2020","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1146\/annurev.cellbio.21.022404.142018","article-title":"Specificity and Versatility in Tgf-Beta Signaling through Smads","volume":"21","author":"Feng","year":"2005","journal-title":"Annu. Rev. Cell. Dev. Biol."},{"key":"ref_116","first-page":"mr1","article-title":"BMPs: From Bone to Body Morphogenetic Proteins","volume":"3","author":"Wagner","year":"2010","journal-title":"Sci. Signal."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.cell.2010.06.010","article-title":"TGF-Beta Signaling Specifies Axons during Brain Development","volume":"142","author":"Yi","year":"2010","journal-title":"Cell"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"16009","DOI":"10.1038\/boneres.2016.9","article-title":"TGF-\u03b2 and BMP Signaling in Osteoblast, Skeletal Development, and Bone Formation, Homeostasis and Disease","volume":"4","author":"Wu","year":"2016","journal-title":"Bone Res."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1016\/j.biocel.2008.10.032","article-title":"Smad3 Activates the Sox9-Dependent Transcription on Chromatin","volume":"41","author":"Furumatsu","year":"2009","journal-title":"Int. J. Biochem. Cell. Biol."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1002\/art.23370","article-title":"Functional Characterization of Hypertrophy in Chondrogenesis of Human Mesenchymal Stem Cells","volume":"58","author":"Mueller","year":"2008","journal-title":"Arthritis Rheum."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1016\/S0736-0266(03)00008-1","article-title":"Smad6 Is Induced by BMP-2 and Modulates Chondrocyte Differentiation","volume":"21","author":"Li","year":"2003","journal-title":"J. Orthop. Res."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1002\/stem.1633","article-title":"Alk2 Regulates Early Chondrogenic Fate in Fibrodysplasia Ossificans Progressiva Heterotopic Endochondral Ossification","volume":"32","author":"Culbert","year":"2014","journal-title":"Stem Cells"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1038\/ncb434","article-title":"Differentiation Plasticity Regulated by TGF-Beta Family Proteins in Development and Disease","volume":"9","author":"Derynck","year":"2007","journal-title":"Nat. Cell Biol."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1038\/ng1511","article-title":"A Syndrome of Altered Cardiovascular, Craniofacial, Neurocognitive and Skeletal Development Caused by Mutations in TGFBR1 or TGFBR2","volume":"37","author":"Loeys","year":"2005","journal-title":"Nat. Genet."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmg.2005.033522","article-title":"Camurati-Engelmann Disease: Review of the Clinical, Radiological, and Molecular Data of 24 Families and Implications for Diagnosis and Treatment","volume":"43","author":"Janssens","year":"2006","journal-title":"J. Med. Genet."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"11469","DOI":"10.1074\/jbc.C000859200","article-title":"Domain-Specific Mutations of a Transforming Growth Factor (TGF)-Beta 1 Latency-Associated Peptide Cause Camurati-Engelmann Disease Because of the Formation of a Constitutively Active Form of TGF-Beta 1","volume":"276","author":"Saito","year":"2001","journal-title":"J. Biol. Chem."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1002\/jor.20359","article-title":"Distinct Roles of Bone Morphogenetic Proteins in Osteogenic Differentiation of Mesenchymal Stem Cells","volume":"25","author":"Luu","year":"2007","journal-title":"J. Orthop. Res."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"16005","DOI":"10.1038\/boneres.2016.5","article-title":"The Biological Function of Type I Receptors of Bone Morphogenetic Protein in Bone","volume":"4","author":"Lin","year":"2016","journal-title":"Bone Res."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1186\/s13023-015-0299-5","article-title":"A Hypomorphic BMPR1B Mutation Causes Du Pan Acromesomelic Dysplasia","volume":"10","author":"Stange","year":"2015","journal-title":"Orphanet. J. Rare. Dis."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1002\/humu.20741","article-title":"Mutations in GDF6 Are Associated with Vertebral Segmentation Defects in Klippel-Feil Syndrome","volume":"29","author":"Tassabehji","year":"2008","journal-title":"Hum. Mutat."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1111\/cge.12365","article-title":"Myhre Syndrome","volume":"85","author":"Michot","year":"2014","journal-title":"Clin. Genet."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1038\/6821","article-title":"Heterozygous Mutations in the Gene Encoding Noggin Affect Human Joint Morphogenesis","volume":"21","author":"Gong","year":"1999","journal-title":"Nat. Genet."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1086\/519697","article-title":"A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN","volume":"81","author":"Lehmann","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1038\/jhg.2015.116","article-title":"BMPER Variants Associated with a Novel, Attenuated Subtype of Diaphanospondylodysostosis","volume":"60","author":"Zong","year":"2015","journal-title":"J. Hum. Genet."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1038\/ng1453","article-title":"Loss-of-Function Mutations in LEMD3 Result in Osteopoikilosis, Buschke-Ollendorff Syndrome and Melorheostosis","volume":"36","author":"Hellemans","year":"2004","journal-title":"Nat. Genet."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1038\/ng.2421","article-title":"Mutations in the TGF-\u03b2 Repressor SKI Cause Shprintzen-Goldberg Syndrome with Aortic Aneurysm","volume":"44","author":"Doyle","year":"2012","journal-title":"Nat. Genet."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1038\/nrm3528","article-title":"Exploring Mechanisms of FGF Signalling through the Lens of Structural Biology","volume":"14","author":"Goetz","year":"2013","journal-title":"Nat. Rev. Mol. Cell. Biol."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1002\/wdev.176","article-title":"The Fibroblast Growth Factor Signaling Pathway","volume":"4","author":"Ornitz","year":"2015","journal-title":"Wiley Interdiscip. Rev. Dev. Biol."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/j.ydbio.2006.05.031","article-title":"Fibroblast Growth Factor Receptor 1 Signaling in the Osteo-Chondrogenic Cell Lineage Regulates Sequential Steps of Osteoblast Maturation","volume":"296","author":"Jacob","year":"2006","journal-title":"Dev. Biol."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"1446","DOI":"10.1101\/gad.990702","article-title":"FGF Signaling Pathways in Endochondral and Intramembranous Bone Development and Human Genetic Disease","volume":"16","author":"Ornitz","year":"2002","journal-title":"Genes Dev."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"1603","DOI":"10.1093\/hmg\/9.11.1603","article-title":"A Neonatal Lethal Mutation in FGFR3 Uncouples Proliferation and Differentiation of Growth Plate Chondrocytes in Embryos","volume":"9","author":"Iwata","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1016\/j.ydbio.2007.04.048","article-title":"FGF9 Regulates Early Hypertrophic Chondrocyte Differentiation and Skeletal Vascularization in the Developing Stylopod","volume":"307","author":"Hung","year":"2007","journal-title":"Dev. Biol."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1038\/ng0496-390","article-title":"Skeletal Overgrowth and Deafness in Mice Lacking Fibroblast Growth Factor Receptor 3","volume":"12","author":"Colvin","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1093\/hmg\/10.12.1255","article-title":"Highly Activated Fgfr3 with the K644M Mutation Causes Prolonged Survival in Severe Dwarf Mice","volume":"10","author":"Iwata","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.ydbio.2006.08.071","article-title":"FGF18 Is Required for Early Chondrocyte Proliferation, Hypertrophy and Vascular Invasion of the Growth Plate","volume":"302","author":"Liu","year":"2007","journal-title":"Dev. Biol."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"3063","DOI":"10.1242\/dev.00491","article-title":"Conditional Inactivation of FGF Receptor 2 Reveals an Essential Role for FGF Signaling in the Regulation of Osteoblast Function and Bone Growth","volume":"130","author":"Yu","year":"2003","journal-title":"Development"},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"12555","DOI":"10.1073\/pnas.0405031101","article-title":"A Gain-of-Function Mutation of Fgfr2c Demonstrates the Roles of This Receptor Variant in Osteogenesis","volume":"101","author":"Eswarakumar","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_148","first-page":"271","article-title":"Defective Bone Mineralization and Osteopenia in Young Adult FGFR3-\/- Mice","volume":"13","author":"Liu","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1038\/371252a0","article-title":"Mutations in the Gene Encoding Fibroblast Growth Factor Receptor-3 in Achondroplasia","volume":"371","author":"Rousseau","year":"1994","journal-title":"Nature"},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/0092-8674(94)90302-6","article-title":"Mutations in the Transmembrane Domain of FGFR3 Cause the Most Common Genetic Form of Dwarfism, Achondroplasia","volume":"78","author":"Shiang","year":"1994","journal-title":"Cell"},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1359\/jbmr.2000.15.1.155","article-title":"Expression of FGFR3 with the G380R Achondroplasia Mutation Inhibits Proliferation and Maturation of CFK2 Chondrocytic Cells","volume":"15","author":"Henderson","year":"2000","journal-title":"J. Bone Miner. Res."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"13007","DOI":"10.1074\/jbc.273.21.13007","article-title":"Fibroblast Growth Factor Receptor 3 Mutations Promote Apoptosis but Do Not Alter Chondrocyte Proliferation in Thanatophoric Dysplasia","volume":"273","author":"Delezoide","year":"1998","journal-title":"J. Biol. Chem."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/ng0696-233","article-title":"Graded Activation of Fibroblast Growth Factor Receptor 3 by Mutations Causing Achondroplasia and Thanatophoric Dysplasia","volume":"13","author":"Naski","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/j.bbadis.2008.11.010","article-title":"Activating Fgfr3 Y367C Mutation Causes Hearing Loss and Inner Ear Defect in a Mouse Model of Chondrodysplasia","volume":"1792","author":"Pannier","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.1038\/sj.ejhg.5201700","article-title":"Novel FGFR3 Mutations Creating Cysteine Residues in the Extracellular Domain of the Receptor Cause Achondroplasia or Severe Forms of Hypochondroplasia","volume":"14","author":"Heuertz","year":"2006","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<148::AID-AJMG26>3.0.CO;2-N","article-title":"Common Mutations in the Fibroblast Growth Factor Receptor 3 (FGFR 3) Gene Account for Achondroplasia, Hypochondroplasia, and Thanatophoric Dwarfism","volume":"63","author":"Bonaventure","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/S0901-5027(98)80036-2","article-title":"Achondroplasia, Hypochondroplasia and Thanatophoric Dysplasia: Clinically Related Skeletal Dysplasias That Are Also Related at the Molecular Level","volume":"27","author":"Cohen","year":"1998","journal-title":"Int. J. Oral. Maxillofac. Surg."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1086\/302275","article-title":"A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is Caused by a Lys650Met Mutation in the Fibroblast Growth Factor Receptor 3 Gene","volume":"64","author":"Tavormina","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1002\/(SICI)1096-8628(19990702)85:1<53::AID-AJMG10>3.0.CO;2-F","article-title":"Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN): Phenotypic Analysis of a New Skeletal Dysplasia Caused by a Lys650Met Mutation in Fibroblast Growth Factor Receptor 3","volume":"85","author":"Bellus","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1086\/508433","article-title":"A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome","volume":"79","author":"Toydemir","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1002\/humu.22597","article-title":"A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly","volume":"35","author":"Makrythanasis","year":"2014","journal-title":"Hum. Mutat."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1038\/ng1757","article-title":"Mutations in Different Components of FGF Signaling in LADD Syndrome","volume":"38","author":"Rohmann","year":"2006","journal-title":"Nat. Genet."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"5690","DOI":"10.1242\/jcs.108167","article-title":"FGF Receptors 1 and 2 Are Key Regulators of Keratinocyte Migration in Vitro and in Wounded Skin","volume":"125","author":"Meyer","year":"2012","journal-title":"J. Cell. Sci."},{"key":"ref_164","first-page":"555","article-title":"A Unique Point Mutation in the Fibroblast Growth Factor Receptor 3 Gene (FGFR3) Defines a New Craniosynostosis Syndrome","volume":"60","author":"Muenke","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1002\/(SICI)1096-8628(19980518)77:3<219::AID-AJMG6>3.0.CO;2-K","article-title":"FGFR2 Mutation Associated with Clinical Manifestations Consistent with Antley-Bixler Syndrome","volume":"77","author":"Chun","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1086\/301855","article-title":"Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations","volume":"62","author":"Paznekas","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1038\/ng0896-492","article-title":"Fibroblast Growth Factor Receptor 2 Mutations in Beare-Stevenson Cutis Gyrata Syndrome","volume":"13","author":"Przylepa","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1038\/ng1194-269","article-title":"A Common Mutation in the Fibroblast Growth Factor Receptor 1 Gene in Pfeiffer Syndrome","volume":"8","author":"Muenke","year":"1994","journal-title":"Nat. Genet."},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/1096-8628(20000703)93:1<22::AID-AJMG5>3.0.CO;2-U","article-title":"Clinical Findings in a Patient with FGFR1 P252R Mutation and Comparison with the Literature","volume":"93","author":"Roscioli","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1136\/jmedgenet-2013-101603","article-title":"FGFR1 Mutations Cause Hartsfield Syndrome, the Unique Association of Holoprosencephaly and Ectrodactyly","volume":"50","author":"Simonis","year":"2013","journal-title":"J. Med. Genet."},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1086\/427956","article-title":"Mutations That Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation","volume":"76","author":"White","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.ajhg.2009.06.007","article-title":"Multiple Synostoses Syndrome Is Due to a Missense Mutation in Exon 2 of FGF9 Gene","volume":"85","author":"Wu","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1111\/j.1399-0004.2006.00597.x","article-title":"LADD Syndrome Is Caused by FGF10 Mutations","volume":"69","author":"Milunsky","year":"2006","journal-title":"Clin. Genet."},{"key":"ref_174","doi-asserted-by":"crossref","unstructured":"ADHR (2000). Consortium Autosomal Dominant Hypophosphataemic Rickets Is Associated with Mutations in FGF23. Nat. Genet., 26, 345\u2013348.","DOI":"10.1038\/81664"},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"1637","DOI":"10.1681\/ASN.2007010068","article-title":"How Fibroblast Growth Factor 23 Works","volume":"18","author":"Liu","year":"2007","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1016\/j.bone.2005.03.006","article-title":"Complementary Antagonistic Actions between C-Type Natriuretic Peptide and the MAPK Pathway through FGFR-3 in ATDC5 Cells","volume":"36","author":"Ozasa","year":"2005","journal-title":"Bone"},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"5089","DOI":"10.1242\/jcs.02618","article-title":"Interaction of Fibroblast Growth Factor and C-Natriuretic Peptide Signaling in Regulation of Chondrocyte Proliferation and Extracellular Matrix Homeostasis","volume":"118","author":"Krejci","year":"2005","journal-title":"J. Cell Sci."},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1086\/422013","article-title":"Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux","volume":"75","author":"Bartels","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"ref_179","doi-asserted-by":"crossref","unstructured":"Miura, K., Namba, N., Fujiwara, M., Ohata, Y., Ishida, H., Kitaoka, T., Kubota, T., Hirai, H., Higuchi, C., and Tsumaki, N. (2012). An Overgrowth Disorder Associated with Excessive Production of CGMP Due to a Gain-of-Function Mutation of the Natriuretic Peptide Receptor 2 Gene. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0042180"},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1016\/j.devcel.2007.04.016","article-title":"Visualization of Cartilage Formation: Insight into Cellular Properties of Skeletal Progenitors and Chondrodysplasia Syndromes","volume":"12","author":"Barna","year":"2007","journal-title":"Dev. Cell."},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/S1534-5807(01)00003-X","article-title":"The Transcription Factors L-Sox5 and Sox6 Are Essential for Cartilage Formation","volume":"1","author":"Smits","year":"2001","journal-title":"Dev. Cell."},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/j.devcel.2011.12.024","article-title":"Sox9 Directs Hypertrophic Maturation and Blocks Osteoblast Differentiation of Growth Plate Chondrocytes","volume":"22","author":"Dy","year":"2012","journal-title":"Dev. Cell."},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1101\/gad.1171104","article-title":"Interactions between Sox9 and Beta-Catenin Control Chondrocyte Differentiation","volume":"18","author":"Akiyama","year":"2004","journal-title":"Genes Dev."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"3323","DOI":"10.1074\/jbc.M808048200","article-title":"Sox9 Inhibits Wnt Signaling by Promoting Beta-Catenin Phosphorylation in the Nucleus","volume":"284","author":"Topol","year":"2009","journal-title":"J. Biol. Chem."},{"key":"ref_185","doi-asserted-by":"crossref","first-page":"19004","DOI":"10.1073\/pnas.0605170103","article-title":"Dominance of SOX9 Function over RUNX2 during Skeletogenesis","volume":"103","author":"Zhou","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1242\/dev.045203","article-title":"SOX9 Is a Major Negative Regulator of Cartilage Vascularization, Bone Marrow Formation and Endochondral Ossification","volume":"137","author":"Hattori","year":"2010","journal-title":"Development"},{"key":"ref_187","doi-asserted-by":"crossref","unstructured":"Leung, V.Y.L., Gao, B., Leung, K.K.H., Melhado, I.G., Wynn, S.L., Au, T.Y.K., Dung, N.W.F., Lau, J.Y.B., Mak, A.C.Y., and Chan, D. (2011). SOX9 Governs Differentiation Stage-Specific Gene Expression in Growth Plate Chondrocytes via Direct Concomitant Transactivation and Repression. PLoS Genet., 7.","DOI":"10.1371\/journal.pgen.1002356"},{"key":"ref_188","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1038\/372525a0","article-title":"Campomelic Dysplasia and Autosomal Sex Reversal Caused by Mutations in an SRY-Related Gene","volume":"372","author":"Foster","year":"1994","journal-title":"Nature"},{"key":"ref_189","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1016\/0092-8674(94)90041-8","article-title":"Autosomal Sex Reversal and Campomelic Dysplasia Are Caused by Mutations in and around the SRY-Related Gene SOX9","volume":"79","author":"Wagner","year":"1994","journal-title":"Cell"},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"2344","DOI":"10.1002\/humu.23888","article-title":"Dominant-Negative SOX9 Mutations in Campomelic Dysplasia","volume":"40","author":"Csukasi","year":"2019","journal-title":"Hum. Mutat."},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1002\/jcb.22994","article-title":"Signaling Networks in RUNX2-Dependent Bone Development","volume":"112","author":"Komori","year":"2011","journal-title":"J. Cell. Biochem."},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"2813","DOI":"10.1101\/gad.1017802","article-title":"The Transcription Factor Sox9 Has Essential Roles in Successive Steps of the Chondrocyte Differentiation Pathway and Is Required for Expression of Sox5 and Sox6","volume":"16","author":"Akiyama","year":"2002","journal-title":"Genes Dev."},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/(SICI)1097-0177(199904)214:4<279::AID-AJA1>3.0.CO;2-W","article-title":"Maturational Disturbance of Chondrocytes in Cbfa1-Deficient Mice","volume":"214","author":"Inada","year":"1999","journal-title":"Dev. Dyn."},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/S0925-4773(98)00210-X","article-title":"Regulation of Chondrocyte Differentiation by Cbfa1","volume":"80","author":"Kim","year":"1999","journal-title":"Mech. Dev."},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1002\/jcb.10677","article-title":"Runx2\/Cbfa1 Stimulation by Retinoic Acid Is Potentiated by BMP2 Signaling through Interaction with Smad1 on the Collagen X Promoter in Chondrocytes","volume":"90","author":"Drissi","year":"2003","journal-title":"J. Cell Biochem."},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1083\/jcb.200211089","article-title":"Type X Collagen Gene Regulation by Runx2 Contributes Directly to Its Hypertrophic Chondrocyte-Specific Expression in Vivo","volume":"162","author":"Zheng","year":"2003","journal-title":"J. Cell. Biol."},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"5037","DOI":"10.1074\/jbc.275.7.5037","article-title":"Parathyroid Hormone Regulation of the Rat Collagenase-3 Promoter by Protein Kinase A-Dependent Transactivation of Core Binding Factor Alpha1","volume":"275","author":"Selvamurugan","year":"2000","journal-title":"J. Biol. Chem."},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"8412","DOI":"10.1074\/jbc.M705578200","article-title":"Structural Coupling of Smad and Runx2 for Execution of the BMP2 Osteogenic Signal","volume":"283","author":"Javed","year":"2008","journal-title":"J. Biol. Chem."},{"key":"ref_199","doi-asserted-by":"crossref","first-page":"2937","DOI":"10.1101\/gad.1482906","article-title":"Runx2 Inhibits Chondrocyte Proliferation and Hypertrophy through Its Expression in the Perichondrium","volume":"20","author":"Hinoi","year":"2006","journal-title":"Genes Dev."},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1006\/dbio.2002.0640","article-title":"Role of Runx Genes in Chondrocyte Differentiation","volume":"245","author":"Stricker","year":"2002","journal-title":"Dev. Biol."},{"key":"ref_201","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1093\/hmg\/ddy386","article-title":"Runx2 Regulates Cranial Suture Closure by Inducing Hedgehog, Fgf, Wnt and Pthlh Signaling Pathway Gene Expressions in Suture Mesenchymal Cells","volume":"28","author":"Qin","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"ref_202","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1101\/gad.13.8.1025","article-title":"A Cbfa1-Dependent Genetic Pathway Controls Bone Formation beyond Embryonic Development","volume":"13","author":"Ducy","year":"1999","journal-title":"Genes Dev."},{"key":"ref_203","first-page":"177","article-title":"Cleidocranial Dysplasia: Clinical and Molecular Genetics","volume":"36","author":"Mundlos","year":"1999","journal-title":"J. Med. Genet."},{"key":"ref_204","first-page":"1057","article-title":"Novel Mutation of RUNX2 Gene in a Patient with Cleidocranial Dysplasia","volume":"8","author":"Guo","year":"2015","journal-title":"Int. J. Clin. Exp. Pathol."},{"key":"ref_205","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/j.ajhg.2012.12.001","article-title":"Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2","volume":"92","author":"Moffatt","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1038\/s41431-018-0166-7","article-title":"A Three-Generation Family with Metaphyseal Dysplasia, Maxillary Hypoplasia and Brachydactyly (MDMHB) Due to Intragenic RUNX2 Duplication","volume":"26","author":"Calder","year":"2018","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_207","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1007\/978-0-387-34133-0_28","article-title":"Molecular Mechanism of Osteochondroprogenitor Fate Determination during Bone Formation","volume":"585","author":"Zou","year":"2006","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_208","doi-asserted-by":"crossref","first-page":"12919","DOI":"10.1073\/pnas.0912855107","article-title":"Multiple Functions of Osterix Are Required for Bone Growth and Homeostasis in Postnatal Mice","volume":"107","author":"Zhou","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_209","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/S0092-8674(01)00622-5","article-title":"The Novel Zinc Finger-Containing Transcription Factor Osterix Is Required for Osteoblast Differentiation and Bone Formation","volume":"108","author":"Nakashima","year":"2002","journal-title":"Cell"},{"key":"ref_210","doi-asserted-by":"crossref","first-page":"33179","DOI":"10.1074\/jbc.M111.337063","article-title":"Osterix Regulates Calcification and Degradation of Chondrogenic Matrices through Matrix Metalloproteinase 13 (MMP13) Expression in Association with Transcription Factor Runx2 during Endochondral Ossification","volume":"287","author":"Nishimura","year":"2012","journal-title":"J. Biol. Chem."},{"key":"ref_211","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.ajhg.2010.05.016","article-title":"Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta","volume":"87","author":"Lapunzina","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"ref_212","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1007\/s00247-019-04533-y","article-title":"The Radiologic Diagnosis of Skeletal Dysplasias: Past, Present and Future","volume":"50","author":"Offiah","year":"2020","journal-title":"Pediatr. Radiol."},{"key":"ref_213","doi-asserted-by":"crossref","first-page":"1648","DOI":"10.1007\/s00247-020-04858-z","article-title":"Pediatric Radiology in the Diagnosis and Management of Skeletal Dysplasias\u2014Welcome to the Era of Genomic Medicine and Modern Drug Pipelines","volume":"50","author":"Calder","year":"2020","journal-title":"Pediatr. Radiol."},{"key":"ref_214","doi-asserted-by":"crossref","first-page":"1680","DOI":"10.1007\/s00247-020-04837-4","article-title":"Genetics for Paediatric Radiologists","volume":"50","author":"Schirwani","year":"2020","journal-title":"Pediatr. Radiol."},{"key":"ref_215","doi-asserted-by":"crossref","unstructured":"Marzin, P., and Cormier-Daire, V. (2020). New Perspectives on the Treatment of Skeletal Dysplasia. Ther. Adv. 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