{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T16:45:14Z","timestamp":1789577114714,"version":"build-2803163510"},"reference-count":89,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2010,12,1]],"date-time":"2010-12-01T00:00:00Z","timestamp":1291161600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Hand Surgery"],"published-print":{"date-parts":[[2010,12]]},"DOI":"10.1016\/j.jhsa.2010.09.031","type":"journal-article","created":{"date-parts":[[2010,12,5]],"date-time":"2010-12-05T04:15:00Z","timestamp":1291522500000},"page":"2066-2076","source":"Crossref","is-referenced-by-count":188,"title":["Developmental Biology and Classification of Congenital Anomalies of the Hand and Upper Extremity"],"prefix":"10.1016","volume":"35","author":[{"given":"Kerby C.","family":"Oberg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer M.","family":"Feenstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul R.","family":"Manske","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Tonkin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jhsa.2010.09.031_bib1","first-page":"366","article-title":"The care of congenital hand anomalies","author":"Flatt","year":"1994"},{"key":"10.1016\/j.jhsa.2010.09.031_bib2","first-page":"166","article-title":"A classification for congenital malformations of the hand","volume":"10","author":"Swanson","year":"1964","journal-title":"Acad Med Bull New Jersey"},{"key":"10.1016\/j.jhsa.2010.09.031_bib3","first-page":"33","article-title":"A proposed international terminology for the classification of congenital limb deficiencies","volume":"28","author":"Kay","year":"1974","journal-title":"Orthotics Prosthetics"},{"key":"10.1016\/j.jhsa.2010.09.031_bib4","series-title":"The growing hand","first-page":"125","article-title":"Classification of congenital anomalies","author":"Knight","year":"2000"},{"key":"10.1016\/j.jhsa.2010.09.031_bib5","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/S0266-7681(02)00299-1","article-title":"Recording congenital differences of the upper limb","volume":"28B","author":"Luijsterburg","year":"2003","journal-title":"J Hand Surg"},{"issue":"Suppl 4","key":"10.1016\/j.jhsa.2010.09.031_bib6","doi-asserted-by":"crossref","first-page":"3","DOI":"10.2106\/JBJS.I.00008","article-title":"Classification and developmental biology of congenital anomalies of the hand and upper extremity","volume":"91A","author":"Manske","year":"2009","journal-title":"J Bone Joint Surg"},{"key":"10.1016\/j.jhsa.2010.09.031_bib7","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1016\/0266-7681(86)90159-2","article-title":"Congenital anomalies of the upper limb among the Japanese in Sapporo","volume":"11B","author":"Ogino","year":"1986","journal-title":"J Hand Surg"},{"key":"10.1016\/j.jhsa.2010.09.031_bib8","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/j.jhsb.2006.05.013","article-title":"Description of congenital hand anomalies: a personal view","volume":"31B","author":"Tonkin","year":"2006","journal-title":"J Hand Surg"},{"key":"10.1016\/j.jhsa.2010.09.031_bib9","series-title":"Plastic surgery","first-page":"32","article-title":"The hand and upper limb: congenital anomalies","author":"Upton","year":"2006"},{"key":"10.1016\/j.jhsa.2010.09.031_bib10","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1242\/dev.121.2.333","article-title":"Hox genes and the evolution of vertebrate axial morphology","volume":"121","author":"Burke","year":"1995","journal-title":"Development"},{"key":"10.1016\/j.jhsa.2010.09.031_bib11","doi-asserted-by":"crossref","first-page":"5161","DOI":"10.1242\/dev.129.22.5161","article-title":"The limb identity gene Tbx5 promotes limb initiation by interacting with Wnt2b and Fgf10","volume":"129","author":"Ng","year":"2002","journal-title":"Development"},{"key":"10.1016\/j.jhsa.2010.09.031_bib12","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":"10.1016\/j.jhsa.2010.09.031_bib13","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1038\/5096","article-title":"Fgf10 is essential for limb and lung formation","volume":"21","author":"Sekine","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.jhsa.2010.09.031_bib14","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1038\/ng0197-30","article-title":"Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome","volume":"15","author":"Basson","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/j.jhsa.2010.09.031_bib15","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1038\/386366a0","article-title":"Expression of radical fringe in limb-bud ectoderm regulates apical ectodermal ridge formation","volume":"386","author":"Laufer","year":"1997","journal-title":"Nature"},{"key":"10.1016\/j.jhsa.2010.09.031_bib16","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/j.ydbio.2007.03.517","article-title":"Interactions between HOXD and Gli3 genes control the limb apical ectodermal ridge via Fgf10","volume":"3061","author":"Zakany","year":"2007","journal-title":"Dev Biol"},{"key":"10.1016\/j.jhsa.2010.09.031_bib17","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1038\/386360a0","article-title":"Radical fringe positions the apical ectodermal ridge at the dorsoventral boundary of the vertebrate limb","volume":"386","author":"Rodriguez-Esteban","year":"1997","journal-title":"Nature"},{"key":"10.1016\/j.jhsa.2010.09.031_bib18","doi-asserted-by":"crossref","first-page":"e1000420","DOI":"10.1371\/journal.pbio.1000420","article-title":"The role of spatially controlled cell proliferation in limb bud morphogenesis","volume":"8","author":"Boehm","year":"2010","journal-title":"PLoS Biol"},{"key":"10.1016\/j.jhsa.2010.09.031_bib19","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1101\/gad.1044903","article-title":"Ectodermal Wnt3\/beta-catenin signaling is required for the establishment and maintenance of the apical ectodermal ridge","volume":"17","author":"Barrow","year":"2003","journal-title":"Genes Dev"},{"key":"10.1016\/j.jhsa.2010.09.031_bib20","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1016\/S0092-8674(01)00285-9","article-title":"WNT signals control FGF-dependent limb initiation and AER induction in the chick embryo","volume":"104","author":"Kawakami","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.jhsa.2010.09.031_bib21","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":"10.1016\/j.jhsa.2010.09.031_bib22","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1038\/371609a0","article-title":"A positive feedback loop coordinates growth and patterning in the vertebrate limb","volume":"371","author":"Niswander","year":"1994","journal-title":"Nature"},{"key":"10.1016\/j.jhsa.2010.09.031_bib23","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1016\/0092-8674(94)90030-2","article-title":"Sonic hedgehog and Fgf-4 act through a signaling cascade and feedback loop to integrate growth and patterning of the developing limb bud","volume":"79","author":"Laufer","year":"1994","journal-title":"Cell"},{"key":"10.1016\/j.jhsa.2010.09.031_bib24","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/75644","article-title":"Conditional inactivation of Fgf4 reveals complexity of signalling during limb bud development","volume":"25","author":"Sun","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.jhsa.2010.09.031_bib25","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1016\/0092-8674(95)90103-5","article-title":"Induction of the LIM homeobox gene Lmx1 by WNT7a establishes dorsoventral pattern in the vertebrate limb","volume":"83","author":"Riddle","year":"1995","journal-title":"Cell"},{"key":"10.1016\/j.jhsa.2010.09.031_bib26","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1038\/378716a0","article-title":"Dorsal cell fate specified by chick Lmx1 during vertebrate limb development","volume":"378","author":"Vogel","year":"1995","journal-title":"Nature"},{"key":"10.1016\/j.jhsa.2010.09.031_bib27","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":"10.1016\/j.jhsa.2010.09.031_bib28","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1016\/0092-8674(95)90297-X","article-title":"Interaction between the signaling molecules WNT7a and SHH during vertebrate limb development: dorsal signals regulate anteroposterior patterning","volume":"80","author":"Yang","year":"1995","journal-title":"Cell"},{"key":"10.1016\/j.jhsa.2010.09.031_bib29","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.biocel.2007.06.009","article-title":"Endochondral ossification: how cartilage is converted into bone in the developing skeleton","volume":"40","author":"Mackie","year":"2008","journal-title":"Int J Biochem Cell Biol"},{"key":"10.1016\/j.jhsa.2010.09.031_bib30","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1093\/hmg\/9.5.695","article-title":"The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome","volume":"9","author":"Clement-Jones","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jhsa.2010.09.031_bib31","doi-asserted-by":"crossref","first-page":"4511","DOI":"10.1073\/pnas.0510544103","article-title":"A mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2 during long-bone development","volume":"103","author":"Cobb","year":"2006","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jhsa.2010.09.031_bib32","first-page":"651","article-title":"A quantitative analysis of the effect of excision of the AER from the chick limb-bud","volume":"32","author":"Summerbell","year":"1974","journal-title":"J Embryol Exp Morphol"},{"key":"10.1016\/j.jhsa.2010.09.031_bib33","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1242\/dev.013268","article-title":"FGF signaling regulates mesenchymal differentiation and skeletal patterning along the limb bud proximodistal axis","volume":"135","author":"Yu","year":"2008","journal-title":"Development"},{"key":"10.1016\/j.jhsa.2010.09.031_bib34","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1242\/dev.018945","article-title":"The apical ectodermal ridge is a timer for generating distal limb progenitors","volume":"135","author":"Lu","year":"2008","journal-title":"Development"},{"key":"10.1016\/j.jhsa.2010.09.031_bib35","first-page":"621","article-title":"Time, place and positional value in the chick limb-bud","volume":"33","author":"Summerbell","year":"1975","journal-title":"J Embryol Exp Morphol"},{"key":"10.1016\/j.jhsa.2010.09.031_bib36","doi-asserted-by":"crossref","first-page":"2134","DOI":"10.1016\/j.cellsig.2008.08.009","article-title":"Wnt-ligand-dependent interaction of TAK1 (TGF-beta-activated kinase-1) with the receptor tyrosine kinase Ror2 modulates canonical Wnt-signalling","volume":"20","author":"Winkel","year":"2008","journal-title":"Cell Signal"},{"key":"10.1016\/j.jhsa.2010.09.031_bib37","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1038\/nature08117","article-title":"A reevaluation of X-irradiation-induced phocomelia and proximodistal limb patterning","volume":"460","author":"Galloway","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.jhsa.2010.09.031_bib38","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1038\/nature06876","article-title":"Genetic evidence that FGFs have an instructive role in limb proximal-distal patterning","volume":"453","author":"Mariani","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.jhsa.2010.09.031_bib39","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1038\/nature00902","article-title":"Functions of FGF signalling from the apical ectodermal ridge in limb development","volume":"418","author":"Sun","year":"2002","journal-title":"Nature"},{"key":"10.1016\/j.jhsa.2010.09.031_bib40","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1101\/gad.1547407","article-title":"Rethinking the proximodistal axis of the vertebrate limb in the molecular era","volume":"21","author":"Tabin","year":"2007","journal-title":"Genes Dev"},{"key":"10.1016\/j.jhsa.2010.09.031_bib41","doi-asserted-by":"crossref","first-page":"1331","DOI":"10.1097\/00006534-200105000-00001","article-title":"Differential expression of fibroblast growth factor receptors in human digital development suggests common pathogenesis in complex acrosyndactyly and craniosynostosis","volume":"107","author":"Britto","year":"2001","journal-title":"Plast Reconstr Surg"},{"key":"10.1016\/j.jhsa.2010.09.031_bib42","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1038\/nature06718","article-title":"Integration of growth and specification in chick wing digit-patterning","volume":"452","author":"Towers","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.jhsa.2010.09.031_bib43","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1016\/j.devcel.2008.01.008","article-title":"Uncoupling sonic hedgehog control of pattern and expansion of the developing limb bud","volume":"14","author":"Zhu","year":"2008","journal-title":"Dev Cell"},{"key":"10.1016\/j.jhsa.2010.09.031_bib44","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/S0266-7681(02)00392-3","article-title":"The classification of phocomelia","volume":"28B","author":"Tytherleigh-Strong","year":"2003","journal-title":"J Hand Surg"},{"key":"10.1016\/j.jhsa.2010.09.031_bib45","doi-asserted-by":"crossref","first-page":"2639","DOI":"10.2106\/JBJS.D.02011","article-title":"Upper-extremity phocomelia reexamined: a longitudinal dysplasia","volume":"87A","author":"Goldfarb","year":"2005","journal-title":"J Bone Joint Surg"},{"key":"10.1016\/j.jhsa.2010.09.031_bib46","doi-asserted-by":"crossref","first-page":"5021","DOI":"10.1242\/dev.124.24.5021","article-title":"Novel regulatory interactions revealed by studies of murine limb pattern in Wnt-7a and En-1 mutants","volume":"124","author":"Cygan","year":"1997","journal-title":"Development"},{"key":"10.1016\/j.jhsa.2010.09.031_bib47","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1038\/ng0598-51","article-title":"Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome","volume":"19","author":"Chen","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.jhsa.2010.09.031_bib48","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1136\/jmg.2005.033555","article-title":"Breakpoints around the HOXD cluster result in various limb malformations","volume":"43","author":"Dlugaszewska","year":"2006","journal-title":"J Med Genet"},{"key":"10.1016\/j.jhsa.2010.09.031_bib49","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1242\/dev.122.2.461","article-title":"Specific and redundant functions of the paralogous Hoxa-9 and Hoxd-9 genes in forelimb and axial skeleton patterning","volume":"122","author":"Fromental-Ramain","year":"1996","journal-title":"Development"},{"key":"10.1016\/j.jhsa.2010.09.031_bib50","doi-asserted-by":"crossref","first-page":"4523","DOI":"10.1242\/dev.124.22.4523","article-title":"Hoxd-12 differentially affects preaxial and postaxial chondrogenic branches in the limb and regulates sonic hedgehog in a positive feedback loop","volume":"124","author":"Knezevic","year":"1997","journal-title":"Development"},{"key":"10.1016\/j.jhsa.2010.09.031_bib51","doi-asserted-by":"crossref","first-page":"1669","DOI":"10.1126\/science.1096049","article-title":"A dual role for Hox genes in limb anterior-posterior asymmetry","volume":"304","author":"Zakany","year":"2004","journal-title":"Science"},{"key":"10.1016\/j.jhsa.2010.09.031_bib52","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1126\/science.289.5478.438","article-title":"Interdigital regulation of digit identity and homeotic transformation by modulated BMP signaling","volume":"289","author":"Dahn","year":"2000","journal-title":"Science"},{"key":"10.1016\/j.jhsa.2010.09.031_bib53","doi-asserted-by":"crossref","first-page":"15103","DOI":"10.1073\/pnas.0604934103","article-title":"Interdigital webbing retention in bat wings illustrates genetic changes underlying amniote limb diversification","volume":"103","author":"Weatherbee","year":"2006","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jhsa.2010.09.031_bib54","doi-asserted-by":"crossref","first-page":"4667","DOI":"10.1242\/dev.02680","article-title":"BMPs regulate multiple aspects of growth-plate chondrogenesis through opposing actions on FGF pathways","volume":"133","author":"Yoon","year":"2006","journal-title":"Development"},{"key":"10.1016\/j.jhsa.2010.09.031_bib55","doi-asserted-by":"crossref","first-page":"4185","DOI":"10.1073\/pnas.0707899105","article-title":"Unique SMAD1\/5\/8 activity at the phalanx-forming region determines digit identity","volume":"105","author":"Suzuki","year":"2008","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jhsa.2010.09.031_bib56","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1126\/science.278.5336.305","article-title":"BMP expression in duck interdigital webbing: a reanalysis","volume":"278","author":"Laufer","year":"1997","journal-title":"Science"},{"key":"10.1016\/j.jhsa.2010.09.031_bib57","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1006\/dbio.2002.0752","article-title":"In vivo evidence that BMP signaling is necessary for apoptosis in the mouse limb","volume":"249","author":"Guha","year":"2002","journal-title":"Dev Biol"},{"key":"10.1016\/j.jhsa.2010.09.031_bib58","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1242\/dev.02172","article-title":"Increasing Fgf4 expression in the mouse limb bud causes polysyndactyly and rescues the skeletal defects that result from loss of Fgf8 function","volume":"133","author":"Lu","year":"2006","journal-title":"Development"},{"key":"10.1016\/j.jhsa.2010.09.031_bib59","doi-asserted-by":"crossref","first-page":"6924","DOI":"10.1074\/jbc.M512932200","article-title":"Inhibition or activation of Apert syndrome FGFR2 (S252W) signaling by specific glycosaminoglycans","volume":"281","author":"McDowell","year":"2006","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jhsa.2010.09.031_bib60","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1038\/nature01033","article-title":"Shh and Gli3 are dispensable for limb skeleton formation but regulate digit number and identity","volume":"418","author":"Litingtung","year":"2002","journal-title":"Nature"},{"key":"10.1016\/j.jhsa.2010.09.031_bib61","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1126\/science.1075620","article-title":"Progression of vertebrate limb development through SHH-mediated counteraction of GLI3","volume":"298","author":"te Welscher","year":"2002","journal-title":"Science"},{"key":"10.1016\/j.jhsa.2010.09.031_bib62","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S0092-8674(00)80678-9","article-title":"Hedgehog-regulated processing of Gli3 produces an anterior\/posterior repressor gradient in the developing vertebrate limb","volume":"100","author":"Wang","year":"2000","journal-title":"Cell"},{"key":"10.1016\/j.jhsa.2010.09.031_bib63","first-page":"597","article-title":"Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis","volume":"60","author":"Radhakrishna","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jhsa.2010.09.031_bib64","doi-asserted-by":"crossref","first-page":"3150","DOI":"10.1002\/ajmg.a.32097","article-title":"Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3","volume":"143A","author":"Furniss","year":"2007","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jhsa.2010.09.031_bib65","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1086\/302557","article-title":"The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A\/B; No phenotype prediction from the position of GLI3 mutations","volume":"65","author":"Radhakrishna","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jhsa.2010.09.031_bib66","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1093\/oxfordjournals.jhered.a107190","article-title":"Hereditary triphalangeal thumb","volume":"53","author":"Swanson","year":"1962","journal-title":"J Hered"},{"key":"10.1016\/j.jhsa.2010.09.031_bib67","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1038\/ejhg.2009.225","article-title":"Preaxial polydactyly\/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS","volume":"18","author":"Farooq","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jhsa.2010.09.031_bib68","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1002\/humu.21142","article-title":"A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb","volume":"31","author":"Wieczorek","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jhsa.2010.09.031_bib69","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1126\/science.272.5261.548","article-title":"Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13","volume":"272","author":"Muragaki","year":"1996","journal-title":"Science"},{"key":"10.1016\/j.jhsa.2010.09.031_bib70","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1086\/338921","article-title":"A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly","volume":"70","author":"Goodman","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jhsa.2010.09.031_bib71","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1086\/302961","article-title":"Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome","volume":"67","author":"Goodman","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jhsa.2010.09.031_bib72","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1038\/ng0297-179","article-title":"Mutation of hoxa-13 in hand-foot-genital syndrome","volume":"15","author":"Mortlock","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/j.jhsa.2010.09.031_bib73","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1111\/j.1399-0004.2009.01238.x","article-title":"The brachydactylies: a molecular disease family","volume":"76","author":"Mundlos","year":"2009","journal-title":"Clin Genet"},{"key":"10.1016\/j.jhsa.2010.09.031_bib74","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":"10.1016\/j.jhsa.2010.09.031_bib75","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/0266-7681(90)90125-N","article-title":"Teratogenic relationship between polydactyly, syndactyly and cleft hand","volume":"15B","author":"Ogino","year":"1990","journal-title":"J Hand Surg"},{"key":"10.1016\/j.jhsa.2010.09.031_bib76","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1111\/j.1440-169X.2007.00949.x","article-title":"Busulfan-induced central polydactyly, syndactyly and cleft hand or foot: a common mechanism of disruption leads to divergent phenotypes","volume":"49","author":"Naruse","year":"2007","journal-title":"Dev Growth Differ"},{"key":"10.1016\/j.jhsa.2010.09.031_bib77","first-page":"353","article-title":"Modified IFSSH Classification","volume":"17","author":"Ogino","year":"2000","journal-title":"J Japan Soc Surg Hand"},{"key":"10.1016\/j.jhsa.2010.09.031_bib78","series-title":"Smith's recognizable patterns of human malformations","first-page":"783","article-title":"Morphogenesis and dysmorphogenesis","author":"Jones","year":"2006"},{"key":"10.1016\/j.jhsa.2010.09.031_bib79","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1002\/ajmg.a.20018","article-title":"Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations","volume":"120A","author":"Debeer","year":"2003","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jhsa.2010.09.031_bib80","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1136\/jmg.2007.055699","article-title":"A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome","volume":"45","author":"Klopocki","year":"2008","journal-title":"J Med Genet"},{"key":"10.1016\/j.jhsa.2010.09.031_bib81","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1016\/j.gde.2005.04.002","article-title":"Preaxial polydactyly: a model for defective long-range regulation in congenital abnormalities","volume":"15","author":"Lettice","year":"2005","journal-title":"Curr Opin Genet Dev"},{"key":"10.1016\/j.jhsa.2010.09.031_bib82","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1136\/jmg.2008.057646","article-title":"Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer","volume":"45","author":"Sun","year":"2008","journal-title":"J Med Genet"},{"key":"10.1016\/j.jhsa.2010.09.031_bib83","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1093\/hmg\/ddg180","article-title":"A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly","volume":"12","author":"Lettice","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jhsa.2010.09.031_bib84","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1093\/hmg\/ddm370","article-title":"Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly","volume":"17","author":"Lettice","year":"2008","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jhsa.2010.09.031_bib85","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1002\/dvdy.20254","article-title":"Single base pair change in the long-range sonic hedgehog limb-specific enhancer is a genetic basis for preaxial polydactyly","volume":"232","author":"Maas","year":"2005","journal-title":"Dev Dyn"},{"key":"10.1016\/j.jhsa.2010.09.031_bib86","first-page":"535","article-title":"A clinical and experimental study on teratogenic mechanism of cleft hand, polydactyly and syndactyly","volume":"53","author":"Ogino","year":"1979","journal-title":"Nippon Seikeigeka Gakkai Zasshi"},{"issue":"Suppl 4","key":"10.1016\/j.jhsa.2010.09.031_bib87","doi-asserted-by":"crossref","first-page":"40","DOI":"10.2106\/JBJS.I.00281","article-title":"Arthrogryposis: a review and update","volume":"91A","author":"Bamshad","year":"2009","journal-title":"J Bone Joint Surg"},{"key":"10.1016\/j.jhsa.2010.09.031_bib88","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1002\/pd.2411","article-title":"Review of perinatal management of arthrogryposis at a large UK teaching hospital serving a multiethnic population","volume":"30","author":"Navti","year":"2010","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.jhsa.2010.09.031_bib89","article-title":"Prenatal assessment of arthrogryposis","author":"Dimitraki","year":"2010","journal-title":"J Matern Fetal Neonatal Med"}],"container-title":["The Journal of Hand Surgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0363502310011871?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0363502310011871?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,11,14]],"date-time":"2021-11-14T13:37:57Z","timestamp":1636897077000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0363502310011871"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,12]]},"references-count":89,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["S0363502310011871"],"URL":"https:\/\/doi.org\/10.1016\/j.jhsa.2010.09.031","relation":{},"ISSN":["0363-5023"],"issn-type":[{"value":"0363-5023","type":"print"}],"subject":[],"published":{"date-parts":[[2010,12]]}}}