{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T00:31:47Z","timestamp":1791851507716,"version":"4.3.4"},"reference-count":77,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2009,2,20]],"date-time":"2009-02-20T00:00:00Z","timestamp":1235088000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2009,12]]},"DOI":"10.1186\/1750-1172-4-5","type":"journal-article","created":{"date-parts":[[2009,2,20]],"date-time":"2009-02-20T14:14:40Z","timestamp":1235139280000},"source":"Crossref","is-referenced-by-count":424,"title":["Osteopetrosis"],"prefix":"10.1186","volume":"4","author":[{"given":"Zornitza","family":"Stark","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ravi","family":"Savarirayan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2009,2,20]]},"reference":[{"key":"139_CR1","first-page":"365","volume":"5","author":"Albers-Schonberg","year":"1904","unstructured":"Albers-Schonberg: Rontgenbilder einer seltenen Knockenerkrankung. Munch Med Wochenschr. 1904, 5: 365-368.","journal-title":"Munch Med Wochenschr"},{"key":"139_CR2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/ajmg.a.31483","volume":"143A","author":"Superti-Furga A US, and the Nosology Group of the International Skeletal Dysplasia Society","year":"2007","unstructured":"Superti-Furga A US, and the Nosology Group of the International Skeletal Dysplasia Society: Nosology and Classification of Genetic Skeletal Disorders: 2006 Revision. American Journal of Medical Genetics Part A. 2007, 143A: 1-18. 10.1002\/ajmg.a.31483.","journal-title":"American Journal of Medical Genetics Part A"},{"key":"139_CR3","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1016\/S0022-3476(77)80441-1","volume":"91","author":"R Loria-Cortes","year":"1977","unstructured":"Loria-Cortes R, Quesada-Calvo E, Cordero-Chaverri C: Osteopetrosis in children: a report of 26 cases. J Pediatr. 1977, 91: 43-47. 10.1016\/S0022-3476(77)80441-1.","journal-title":"J Pediatr"},{"key":"139_CR4","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1016\/8756-3282(88)90021-X","volume":"9","author":"J Bollerslev","year":"1988","unstructured":"Bollerslev J, Andersen PE: Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone. 1988, 9: 7-13. 10.1016\/8756-3282(88)90021-X.","journal-title":"Bone"},{"key":"139_CR5","doi-asserted-by":"publisher","first-page":"103","DOI":"10.3171\/PED-08\/01\/103","volume":"1","author":"YZ Al-Tamimi","year":"2008","unstructured":"Al-Tamimi YZ, Tyagi AK, Chumas PD, Crimmins DW: Patients with autosomal-recessive osteopetrosis presenting with hydrocephalus and hindbrain posterior fossa crowding. J Neurosurg Pediatrics. 2008, 1: 103-106. 10.3171\/PED-08\/01\/103.","journal-title":"J Neurosurg Pediatrics"},{"key":"139_CR6","doi-asserted-by":"publisher","first-page":"762","DOI":"10.1097\/01.mao.0000178139.27472.8d","volume":"26","author":"TS Dozier","year":"2005","unstructured":"Dozier TS, Duncan IM, Klein AJ, Lambert PR, Key LL: Otologic manifestations of malignant osteopetrosis. Otol Neurotol. 2005, 26: 762-766. 10.1097\/01.mao.0000178139.27472.8d.","journal-title":"Otol Neurotol"},{"key":"139_CR7","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1359\/jbmr.071015","volume":"23","author":"B Maranda","year":"2008","unstructured":"Maranda B, Chabot G, Decarie JC, Pata M, Azeddine B, Moreau A, Vacher J: Clinical and cellular manifestations of OSTM1-related infantile osteopetrosis. J Bone Miner Res. 2008, 23: 296-300. 10.1359\/jbmr.071015.","journal-title":"J Bone Miner Res"},{"key":"139_CR8","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1046\/j.1365-2990.2003.00474.x","volume":"29","author":"CG Steward","year":"2003","unstructured":"Steward CG: Neurological aspects of osteopetrosis. Neuropathol Appl Neurobiol. 2003, 29: 87-97. 10.1046\/j.1365-2990.2003.00474.x.","journal-title":"Neuropathol Appl Neurobiol"},{"key":"139_CR9","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1080\/01913120701578098","volume":"31","author":"J Alroy","year":"2007","unstructured":"Alroy J, Pfannl R, Ucci A, Lefranc G, Frattini A, Megarbane A: Electron microscopic findings in skin biopsies from patients with infantile osteopetrosis and neuronal storage disease. Ultrastruct Pathol. 2007, 31: 333-338. 10.1080\/01913120701578098.","journal-title":"Ultrastruct Pathol"},{"key":"139_CR10","doi-asserted-by":"publisher","first-page":"662","DOI":"10.1007\/s002340050660","volume":"40","author":"C Jacquemin","year":"1998","unstructured":"Jacquemin C, Mullaney P, Svedberg E: Marble brain syndrome: osteopetrosis, renal acidosis and calcification of the brain. Neuroradiology. 1998, 40: 662-663. 10.1007\/s002340050660.","journal-title":"Neuroradiology"},{"key":"139_CR11","first-page":"52","volume-title":"Clin Orthop Relat Res","author":"MP Whyte","year":"1993","unstructured":"Whyte MP: Carbonic anhydrase II deficiency. Clin Orthop Relat Res. 1993, 52-63."},{"key":"139_CR12","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1016\/j.ajhg.2008.06.015","volume":"83","author":"MM Guerrini","year":"2008","unstructured":"Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, Moratto D, Mazzolari E, Clayton-Smith J, Orchard P: Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. Am J Hum Genet. 2008, 83: 64-76. 10.1016\/j.ajhg.2008.06.015.","journal-title":"Am J Hum Genet"},{"key":"139_CR13","volume-title":"J Clin Immunol","author":"SS Kilic","year":"2008","unstructured":"Kilic SS, Etzioni A: The Clinical Spectrum of Leukocyte Adhesion Deficiency (LAD) III due to Defective CalDAG-GEF1. J Clin Immunol. 2008"},{"key":"139_CR14","doi-asserted-by":"publisher","first-page":"2591","DOI":"10.1182\/blood-2008-06-163162","volume":"112","author":"A Mory","year":"2008","unstructured":"Mory A, Feigelson SW, Yarali N, Kilic SS, Bayhan GI, Gershoni-Baruch R, Etzioni A, Alon R: Kindlin-3: a new gene involved in the pathogenesis of LAD-III. Blood. 2008, 112: 2591-10.1182\/blood-2008-06-163162.","journal-title":"Blood"},{"key":"139_CR15","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/S8756-3282(99)00244-6","volume":"26","author":"OD Benichou","year":"2000","unstructured":"Benichou OD, Laredo JD, de Vernejoul MC: Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): clinical and radiological manifestations in 42 patients. Bone. 2000, 26: 87-93. 10.1016\/S8756-3282(99)00244-6.","journal-title":"Bone"},{"key":"139_CR16","first-page":"999","volume":"70","author":"P Maroteaux","year":"1962","unstructured":"Maroteaux P, Lamy M: [Pyknodysostosis.]. Presse Med. 1962, 70: 999-1002.","journal-title":"Presse Med"},{"key":"139_CR17","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1001\/jama.1965.03080090029007","volume":"191","author":"P Maroteaux","year":"1965","unstructured":"Maroteaux P, Lamy M: The Malady of Toulouse-Lautrec. Jama. 1965, 191: 715-717.","journal-title":"Jama"},{"key":"139_CR18","doi-asserted-by":"publisher","first-page":"260","DOI":"10.14310\/horm.2002.1177","volume":"1","author":"CS Bartsocas","year":"2002","unstructured":"Bartsocas CS: Pycnodysostosis: Toulouse-Lautrec's and Aesop's disease?. Hormones (Athens). 2002, 1: 260-262. 10.1159\/000068796.","journal-title":"Hormones (Athens)"},{"key":"139_CR19","first-page":"263","volume-title":"Clin Orthop Relat Res","author":"JG Edelson","year":"1992","unstructured":"Edelson JG, Obad S, Geiger R, On A, Artul HJ: Pycnodysostosis. Orthopedic aspects with a description of 14 new cases. Clin Orthop Relat Res. 1992, 263-276."},{"key":"139_CR20","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1016\/0030-4220(91)90559-U","volume":"72","author":"T Muto","year":"1991","unstructured":"Muto T, Michiya H, Taira H, Murase H, Kanazawa M: Pycnodysostosis. Report of a case and review of the Japanese literature, with emphasis on oral and maxillofacial findings. Oral Surg Oral Med Oral Pathol. 1991, 72: 449-455. 10.1016\/0030-4220(91)90559-U.","journal-title":"Oral Surg Oral Med Oral Pathol"},{"key":"139_CR21","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1038\/sj.bdj.4806405","volume":"164","author":"CM Jones","year":"1988","unstructured":"Jones CM, Rennie JS, Blinkhorn AS: Pycnodysostosis. A review of reported dental abnormalities and a report of the dental findings in two cases. Br Dent J. 1988, 164: 218-220. 10.1038\/sj.bdj.4806405.","journal-title":"Br Dent J"},{"key":"139_CR22","doi-asserted-by":"publisher","first-page":"905","DOI":"10.1053\/meta.2001.24924","volume":"50","author":"AT Soliman","year":"2001","unstructured":"Soliman AT, Ramadan MA, Sherif A, Aziz Bedair ES, Rizk MM: Pycnodysostosis: clinical, radiologic, and endocrine evaluation and linear growth after growth hormone therapy. Metabolism. 2001, 50: 905-911. 10.1053\/meta.2001.24924.","journal-title":"Metabolism"},{"key":"139_CR23","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1210\/jcem-37-1-46","volume":"37","author":"RK Baker","year":"1973","unstructured":"Baker RK, Wallach S, Tashjian AH: Plasma calcitonin in pycnodysostosis: intermittently high basal levels and exaggerated responses to calcium and glucagon infusions. J Clin Endocrinol Metab. 1973, 37: 46-55.","journal-title":"J Clin Endocrinol Metab"},{"key":"139_CR24","doi-asserted-by":"publisher","first-page":"504","DOI":"10.1055\/s-0029-1228480","volume":"109","author":"J Spranger","year":"1968","unstructured":"Spranger J, Albrecht C, Rohwedder HJ, Wiedemann HR: [Dysosteosclerosis \u2013 a special form of generalized osteosclerosis]. Fortschr Geb Rontgenstr Nuklearmed. 1968, 109: 504-512.","journal-title":"Fortschr Geb Rontgenstr Nuklearmed"},{"key":"139_CR25","doi-asserted-by":"publisher","first-page":"603","DOI":"10.1136\/jmg.39.8.603","volume":"39","author":"NH Elcioglu","year":"2002","unstructured":"Elcioglu NH, Vellodi A, Hall CM: Dysosteosclerosis: a report of three new cases and evolution of the radiological findings. J Med Genet. 2002, 39: 603-607. 10.1136\/jmg.39.8.603.","journal-title":"J Med Genet"},{"key":"139_CR26","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1016\/S0899-7071(02)00516-8","volume":"27","author":"S Ghai","year":"2003","unstructured":"Ghai S, Sharma R, Ghai S: Mixed sclerosing bone dysplasia \u2013 a case report with literature review. Clin Imaging. 2003, 27: 203-205. 10.1016\/S0899-7071(02)00516-8.","journal-title":"Clin Imaging"},{"key":"139_CR27","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1002\/(SICI)1096-8628(19971003)72:1<43::AID-AJMG9>3.0.CO;2-W","volume":"72","author":"CE Butkus","year":"1997","unstructured":"Butkus CE, Michels VV, Lindor NM, Cooney WP: Melorheostosis in a patient with familial osteopoikilosis. Am J Med Genet. 1997, 72: 43-46. 10.1002\/(SICI)1096-8628(19971003)72:1<43::AID-AJMG9>3.0.CO;2-W.","journal-title":"Am J Med Genet"},{"key":"139_CR28","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1002\/ajmg.a.20072","volume":"119A","author":"P Debeer","year":"2003","unstructured":"Debeer P, Pykels E, Lammens J, Devriendt K, Fryns JP: Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family. Am J Med Genet A. 2003, 119A: 188-193. 10.1002\/ajmg.a.20072.","journal-title":"Am J Med Genet A"},{"key":"139_CR29","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1002\/(SICI)1096-8628(19990219)82:5<409::AID-AJMG10>3.0.CO;2-2","volume":"82","author":"NC Nevin","year":"1999","unstructured":"Nevin NC, Thomas PS, Davis RI, Cowie GH: Melorheostosis in a family with autosomal dominant osteopoikilosis. Am J Med Genet. 1999, 82: 409-414. 10.1002\/(SICI)1096-8628(19990219)82:5<409::AID-AJMG10>3.0.CO;2-2.","journal-title":"Am J Med Genet"},{"key":"139_CR30","doi-asserted-by":"publisher","first-page":"407","DOI":"10.3109\/00016922409133734","volume":"3","author":"N Voorhoeve","year":"1924","unstructured":"Voorhoeve N: L'image radiologique non encore decrit d'une anomalie du squelette; ses rapports avec la dyschondroplasie et l'osteopathia condensans disseminata. Acta Radiol. 1924, 3: 407-427. 10.3109\/00016922409133734.","journal-title":"Acta Radiol"},{"key":"139_CR31","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1111\/j.1399-0004.1997.tb02547.x","volume":"52","author":"R Savarirayan","year":"1997","unstructured":"Savarirayan R, Nance J, Morris L, Haan E, Couper R: Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family. Clin Genet. 1997, 52: 199-205.","journal-title":"Clin Genet"},{"key":"139_CR32","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1210\/er.21.2.115","volume":"21","author":"SC Manolagas","year":"2000","unstructured":"Manolagas SC: Birth and death of bone cells: basic regulatory mechanisms and implications for the pathogenesis and treatment of osteoporosis. Endocr Rev. 2000, 21: 115-137. 10.1210\/er.21.2.115.","journal-title":"Endocr Rev"},{"key":"139_CR33","first-page":"2","volume-title":"Clin Orthop Relat Res","author":"DG Walker","year":"1982","unstructured":"Walker DG: The classic: Osteopetrosis cured by temporary parabiosis. Clin Orthop Relat Res. 1982, 2-3."},{"key":"139_CR34","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1038\/85837","volume":"27","author":"R Doffinger","year":"2001","unstructured":"Doffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S: X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet. 2001, 27: 277-285. 10.1038\/85837.","journal-title":"Nat Genet"},{"key":"139_CR35","doi-asserted-by":"publisher","first-page":"442","DOI":"10.1038\/345442a0","volume":"345","author":"H Yoshida","year":"1990","unstructured":"Yoshida H, Hayashi S, Kunisada T, Ogawa M, Nishikawa S, Okamura H, Sudo T, Shultz LD, Nishikawa S: The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene. Nature. 1990, 345: 442-444. 10.1038\/345442a0.","journal-title":"Nature"},{"key":"139_CR36","doi-asserted-by":"publisher","first-page":"960","DOI":"10.1038\/ng2076","volume":"39","author":"C Sobacchi","year":"2007","unstructured":"Sobacchi C, Frattini A, Guerrini MM, Abinun M, Pangrazio A, Susani L, Bredius R, Mancini G, Cant A, Bishop N: Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. Nat Genet. 2007, 39: 960-962. 10.1038\/ng2076.","journal-title":"Nat Genet"},{"key":"139_CR37","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1016\/S0092-8674(01)00206-9","volume":"104","author":"U Kornak","year":"2001","unstructured":"Kornak U, Kasper D, Bosl MR, Kaiser E, Schweizer M, Schulz A, Friedrich W, Delling G, Jentsch TJ: Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell. 2001, 104: 205-215. 10.1016\/S0092-8674(01)00206-9.","journal-title":"Cell"},{"key":"139_CR38","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1038\/77131","volume":"25","author":"A Frattini","year":"2000","unstructured":"Frattini A, Orchard PJ, Sobacchi C, Giliani S, Abinun M, Mattsson JP, Keeling DJ, Andersson AK, Wallbrandt P, Zecca L: Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet. 2000, 25: 343-346. 10.1038\/77131.","journal-title":"Nat Genet"},{"key":"139_CR39","doi-asserted-by":"publisher","first-page":"2059","DOI":"10.1093\/hmg\/9.13.2059","volume":"9","author":"U Kornak","year":"2000","unstructured":"Kornak U, Schulz A, Friedrich W, Uhlhaas S, Kremens B, Voit T, Hasan C, Bode U, Jentsch TJ, Kubisch C: Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. Hum Mol Genet. 2000, 9: 2059-2063. 10.1093\/hmg\/9.13.2059.","journal-title":"Hum Mol Genet"},{"key":"139_CR40","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1038\/70563","volume":"23","author":"YP Li","year":"1999","unstructured":"Li YP, Chen W, Liang Y, Li E, Stashenko P: Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification. Nat Genet. 1999, 23: 447-451. 10.1038\/70563.","journal-title":"Nat Genet"},{"key":"139_CR41","doi-asserted-by":"publisher","first-page":"1767","DOI":"10.1093\/hmg\/10.17.1767","volume":"10","author":"C Sobacchi","year":"2001","unstructured":"Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I, Andolina M, Babul-Hirji R, Baric I, Canham N, Chitayat D: The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet. 2001, 10: 1767-1773. 10.1093\/hmg\/10.17.1767.","journal-title":"Hum Mol Genet"},{"key":"139_CR42","doi-asserted-by":"publisher","first-page":"1079","DOI":"10.1038\/sj.emboj.7600576","volume":"24","author":"D Kasper","year":"2005","unstructured":"Kasper D, Planells-Cases R, Fuhrmann JC, Scheel O, Zeitz O, Ruether K, Schmitt A, Poet M, Steinfeld R, Schweizer M: Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration. Embo J. 2005, 24: 1079-1091. 10.1038\/sj.emboj.7600576.","journal-title":"Embo J"},{"key":"139_CR43","doi-asserted-by":"publisher","first-page":"2861","DOI":"10.1093\/hmg\/10.25.2861","volume":"10","author":"E Cleiren","year":"2001","unstructured":"Cleiren E, Benichou O, Van Hul E, Gram J, Bollerslev J, Singer FR, Beaverson K, Aledo A, Whyte MP, Yoneyama T: Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet. 2001, 10: 2861-2867. 10.1093\/hmg\/10.25.2861.","journal-title":"Hum Mol Genet"},{"key":"139_CR44","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1038\/nature04535","volume":"440","author":"PF Lange","year":"2006","unstructured":"Lange PF, Wartosch L, Jentsch TJ, Fuhrmann JC: ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function. Nature. 2006, 440: 220-223. 10.1038\/nature04535.","journal-title":"Nature"},{"key":"139_CR45","doi-asserted-by":"publisher","first-page":"887","DOI":"10.1007\/s00335-001-1014-5","volume":"12","author":"N Chalhoub","year":"2001","unstructured":"Chalhoub N, Benachenhou N, Vacher J: Physical and transcriptional map of the mouse Chromosome 10 proximal region syntenic to human 6q16-q21. Mamm Genome. 2001, 12: 887-892. 10.1007\/s00335-001-1014-5.","journal-title":"Mamm Genome"},{"key":"139_CR46","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1002\/humu.20028","volume":"23","author":"A Ramirez","year":"2004","unstructured":"Ramirez A, Faupel J, Goebel I, Stiller A, Beyer S, Stockle C, Hasan C, Bode U, Kornak U, Kubisch C: Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. Hum Mutat. 2004, 23: 471-476. 10.1002\/humu.20028.","journal-title":"Hum Mutat"},{"key":"139_CR47","doi-asserted-by":"publisher","first-page":"2752","DOI":"10.1073\/pnas.80.9.2752","volume":"80","author":"WS Sly","year":"1983","unstructured":"Sly WS, Hewett-Emmett D, Whyte MP, Yu YS, Tashian RE: Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. Proc Natl Acad Sci USA. 1983, 80: 2752-2756. 10.1073\/pnas.80.9.2752.","journal-title":"Proc Natl Acad Sci USA"},{"key":"139_CR48","doi-asserted-by":"publisher","first-page":"1399","DOI":"10.1359\/jbmr.060614","volume":"21","author":"V Everts","year":"2006","unstructured":"Everts V, Korper W, Hoeben KA, Jansen ID, Bromme D, Cleutjens KB, Heeneman S, Peters C, Reinheckel T, Saftig P, Beertsen W: Osteoclastic bone degradation and the role of different cysteine proteinases and matrix metalloproteinases: differences between calvaria and long bone. J Bone Miner Res. 2006, 21: 1399-1408. 10.1359\/jbmr.060614.","journal-title":"J Bone Miner Res"},{"key":"139_CR49","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1196\/annals.1346.018","volume":"1068","author":"BR Troen","year":"2006","unstructured":"Troen BR: The regulation of cathepsin K gene expression. Ann N Y Acad Sci. 2006, 1068: 165-172. 10.1196\/annals.1346.018.","journal-title":"Ann N Y Acad Sci"},{"key":"139_CR50","doi-asserted-by":"publisher","first-page":"12517","DOI":"10.1074\/jbc.271.21.12517","volume":"271","author":"MJ Bossard","year":"1996","unstructured":"Bossard MJ, Tomaszek TA, Thompson SK, Amegadzie BY, Hanning CR, Jones C, Kurdyla JT, McNulty DE, Drake FH, Gowen M, Levy MA: Proteolytic activity of human osteoclast cathepsin K. Expression, purification, activation, and substrate identification. J Biol Chem. 1996, 271: 12517-12524. 10.1074\/jbc.271.21.12517.","journal-title":"J Biol Chem"},{"key":"139_CR51","doi-asserted-by":"publisher","first-page":"1396","DOI":"10.1359\/jbmr.1997.12.9.1396","volume":"12","author":"BJ Votta","year":"1997","unstructured":"Votta BJ, Levy MA, Badger A, Bradbeer J, Dodds RA, James IE, Thompson S, Bossard MJ, Carr T, Connor JR: Peptide aldehyde inhibitors of cathepsin K inhibit bone resorption both in vitro and in vivo. J Bone Miner Res. 1997, 12: 1396-1406. 10.1359\/jbmr.1997.12.9.1396.","journal-title":"J Bone Miner Res"},{"key":"139_CR52","doi-asserted-by":"publisher","first-page":"13453","DOI":"10.1073\/pnas.95.23.13453","volume":"95","author":"P Saftig","year":"1998","unstructured":"Saftig P, Hunziker E, Wehmeyer O, Jones S, Boyde A, Rommerskirch W, Moritz JD, Schu P, von Figura K: Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient mice. Proc Natl Acad Sci USA. 1998, 95: 13453-13458. 10.1073\/pnas.95.23.13453.","journal-title":"Proc Natl Acad Sci USA"},{"key":"139_CR53","doi-asserted-by":"publisher","first-page":"1654","DOI":"10.1359\/jbmr.1999.14.10.1654","volume":"14","author":"M Gowen","year":"1999","unstructured":"Gowen M, Lazner F, Dodds R, Kapadia R, Feild J, Tavaria M, Bertoncello I, Drake F, Zavarselk S, Tellis I: Cathepsin K knockout mice develop osteopetrosis due to a deficit in matrix degradation but not demineralization. J Bone Miner Res. 1999, 14: 1654-1663. 10.1359\/jbmr.1999.14.10.1654.","journal-title":"J Bone Miner Res"},{"key":"139_CR54","doi-asserted-by":"publisher","first-page":"1236","DOI":"10.1126\/science.273.5279.1236","volume":"273","author":"BD Gelb","year":"1996","unstructured":"Gelb BD, Shi GP, Chapman HA, Desnick RJ: Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science. 1996, 273: 1236-1238. 10.1126\/science.273.5279.1236.","journal-title":"Science"},{"key":"139_CR55","doi-asserted-by":"publisher","first-page":"1050","DOI":"10.1101\/gr.6.11.1050","volume":"6","author":"MR Johnson","year":"1996","unstructured":"Johnson MR, Polymeropoulos MH, Vos HL, Ortiz de Luna RI, Francomano CA: A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis. Genome Res. 1996, 6: 1050-1055. 10.1101\/gr.6.11.1050.","journal-title":"Genome Res"},{"key":"139_CR56","doi-asserted-by":"publisher","first-page":"919","DOI":"10.1172\/JCI30328","volume":"117","author":"L Van Wesenbeeck","year":"2007","unstructured":"Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F: Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans. J Clin Invest. 2007, 117: 919-930. 10.1172\/JCI30328.","journal-title":"J Clin Invest"},{"key":"139_CR57","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1359\/jbmr.2004.19.2.183","volume":"19","author":"L van Wesenbeeck","year":"2004","unstructured":"van Wesenbeeck L, Odgren PR, Mackay CA, Van Hul W: Localization of the gene causing the osteopetrotic phenotype in the incisors absent (ia) rat on chromosome 10q32.1. J Bone Miner Res. 2004, 19: 183-189. 10.1359\/jbmr.2004.19.2.183.","journal-title":"J Bone Miner Res"},{"key":"139_CR58","doi-asserted-by":"publisher","first-page":"1213","DOI":"10.1038\/ng1453","volume":"36","author":"J Hellemans","year":"2004","unstructured":"Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ: Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet. 2004, 36: 1213-1218. 10.1038\/ng1453.","journal-title":"Nat Genet"},{"key":"139_CR59","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1002\/humu.9403","volume":"27","author":"J Hellemans","year":"2006","unstructured":"Hellemans J, Debeer P, Wright M, Janecke A, Kjaer KW, Verdonk PC, Savarirayan R, Basel L, Moss C, Roth J: Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. Hum Mutat. 2006, 27: 290-10.1002\/humu.9403.","journal-title":"Hum Mutat"},{"key":"139_CR60","doi-asserted-by":"publisher","first-page":"833","DOI":"10.1038\/ng2052","volume":"39","author":"KH Grzeschik","year":"2007","unstructured":"Grzeschik KH, Bornholdt D, Oeffner F, Konig A, del Carmen Boente M, Enders H, Fritz B, Hertl M, Grasshoff U, Hofling K: Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet. 2007, 39: 833-835. 10.1038\/ng2052.","journal-title":"Nat Genet"},{"key":"139_CR61","doi-asserted-by":"publisher","first-page":"836","DOI":"10.1038\/ng2057","volume":"39","author":"X Wang","year":"2007","unstructured":"Wang X, Reid Sutton V, Omar Peraza-Llanes J, Yu Z, Rosetta R, Kou YC, Eble TN, Patel A, Thaller C, Fang P, Veyver Van den IB: Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet. 2007, 39: 836-838. 10.1038\/ng2057.","journal-title":"Nat Genet"},{"key":"139_CR62","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1038\/ng.270","volume":"41","author":"ZA Jenkins","year":"2009","unstructured":"Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Minaur S: Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet. 2009, 41: 95-100. 10.1038\/ng.270.","journal-title":"Nat Genet"},{"key":"139_CR63","doi-asserted-by":"publisher","first-page":"2212","DOI":"10.1210\/jcem.87.5.8497","volume":"87","author":"SG Waguespack","year":"2002","unstructured":"Waguespack SG, Hui SL, White KE, Buckwalter KA, Econs MJ: Measurement of tartrate-resistant acid phosphatase and the brain isoenzyme of creatine kinase accurately diagnoses type II autosomal dominant osteopetrosis but does not identify gene carriers. J Clin Endocrinol Metab. 2002, 87: 2212-2217. 10.1210\/jc.87.5.2212.","journal-title":"J Clin Endocrinol Metab"},{"key":"139_CR64","doi-asserted-by":"publisher","first-page":"883","DOI":"10.1373\/clinchem.2003.029355","volume":"50","author":"SL Alatalo","year":"2004","unstructured":"Alatalo SL, Ivaska KK, Waguespack SG, Econs MJ, Vaananen HK, Halleen JM: Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in Albers-Schonberg disease (type II autosomal dominant osteopetrosis). Clin Chem. 2004, 50: 883-890. 10.1373\/clinchem.2003.029355.","journal-title":"Clin Chem"},{"key":"139_CR65","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1136\/jmg.2005.036673","volume":"43","author":"A Del Fattore","year":"2006","unstructured":"Del Fattore A, Peruzzi B, Rucci N, Recchia I, Cappariello A, Longo M, Fortunati D, Ballanti P, Iacobini M, Luciani M: Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment. J Med Genet. 2006, 43: 315-325. 10.1136\/jmg.2005.036673.","journal-title":"J Med Genet"},{"key":"139_CR66","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1002\/pd.1970150512","volume":"15","author":"G Ogur","year":"1995","unstructured":"Ogur G, Ogur E, Celasun B, Baser I, Imirzalioglu N, Ozturk T, Alemdaroglu A: Prenatal diagnosis of autosomal recessive osteopetrosis, infantile type, by X-ray evaluation. Prenat Diagn. 1995, 15: 477-481. 10.1002\/pd.1970150512.","journal-title":"Prenat Diagn"},{"key":"139_CR67","doi-asserted-by":"crossref","first-page":"654","DOI":"10.5435\/00124635-200711000-00004","volume":"15","author":"J Landa","year":"2007","unstructured":"Landa J, Margolis N, Di Cesare P: Orthopaedic management of the patient with osteopetrosis. J Am Acad Orthop Surg. 2007, 15: 654-662.","journal-title":"J Am Acad Orthop Surg"},{"key":"139_CR68","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1159\/000055980","volume":"33","author":"JM Hwang","year":"2000","unstructured":"Hwang JM, Kim IO, Wang KC: Complete visual recovery in osteopetrosis by early optic nerve decompression. Pediatr Neurosurg. 2000, 33: 328-332. 10.1159\/000055980.","journal-title":"Pediatr Neurosurg"},{"key":"139_CR69","doi-asserted-by":"publisher","first-page":"657","DOI":"10.1038\/sj.bmt.1704194","volume":"32","author":"GJ Driessen","year":"2003","unstructured":"Driessen GJ, Gerritsen EJ, Fischer A, Fasth A, Hop WC, Veys P, Porta F, Cant A, Steward CG, Vossen JM: Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report. Bone Marrow Transplant. 2003, 32: 657-663. 10.1038\/sj.bmt.1704194.","journal-title":"Bone Marrow Transplant"},{"key":"139_CR70","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1046\/j.1365-2141.2003.04739.x","volume":"124","author":"CG Steward","year":"2004","unstructured":"Steward CG, Pellier I, Mahajan A, Ashworth MT, Stuart AG, Fasth A, Lang D, Fischer A, Friedrich W, Schulz AS: Severe pulmonary hypertension: a frequent complication of stem cell transplantation for malignant infantile osteopetrosis. Br J Haematol. 2004, 124: 63-71. 10.1046\/j.1365-2141.2003.04739.x.","journal-title":"Br J Haematol"},{"key":"139_CR71","doi-asserted-by":"publisher","first-page":"14629","DOI":"10.1073\/pnas.0507637102","volume":"102","author":"A Frattini","year":"2005","unstructured":"Frattini A, Blair HC, Sacco MG, Cerisoli F, Faggioli F, Cato EM, Pangrazio A, Musio A, Rucci F, Sobacchi C: Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero. Proc Natl Acad Sci USA. 2005, 102: 14629-14634. 10.1073\/pnas.0507637102.","journal-title":"Proc Natl Acad Sci USA"},{"key":"139_CR72","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1016\/S0022-3476(05)82557-0","volume":"121","author":"LL Key Jr","year":"1992","unstructured":"Key LL, Ries WL, Rodriguiz RM, Hatcher HC: Recombinant human interferon gamma therapy for osteopetrosis. J Pediatr. 1992, 121: 119-124. 10.1016\/S0022-3476(05)82557-0.","journal-title":"J Pediatr"},{"key":"139_CR73","doi-asserted-by":"publisher","first-page":"1594","DOI":"10.1056\/NEJM199506153322402","volume":"332","author":"LL Key Jr","year":"1995","unstructured":"Key LL, Rodriguiz RM, Willi SM, Wright NM, Hatcher HC, Eyre DR, Cure JK, Griffin PP, Ries WL: Long-term treatment of osteopetrosis with recombinant human interferon gamma. N Engl J Med. 1995, 332: 1594-1599. 10.1056\/NEJM199506153322402.","journal-title":"N Engl J Med"},{"key":"139_CR74","first-page":"222","volume":"32","author":"MS Kocher","year":"2003","unstructured":"Kocher MS, Kasser JR: Osteopetrosis. Am J Orthop. 2003, 32: 222-228.","journal-title":"Am J Orthop"},{"key":"139_CR75","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1056\/NEJM198402163100701","volume":"310","author":"L Key","year":"1984","unstructured":"Key L, Carnes D, Cole S, Holtrop M, Bar-Shavit Z, Shapiro F, Arceci R, Steinberg J, Gundberg C, Kahn A: Treatment of congenital osteopetrosis with high-dose calcitriol. N Engl J Med. 1984, 310: 409-415.","journal-title":"N Engl J Med"},{"key":"139_CR76","volume-title":"Calcif Tissue Int","author":"A Villa","year":"2008","unstructured":"Villa A, Guerrini MM, Cassani B, Pangrazio A, Sobacchi C: Infantile Malignant, Autosomal Recessive Osteopetrosis: The Rich and The Poor. Calcif Tissue Int. 2008"},{"key":"139_CR77","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/j.bone.2007.08.029","volume":"42","author":"ACA Del Fattore","year":"2008","unstructured":"Del Fattore ACA, Teti A: Genetics, pathogenesis and complications of osteopetrosis. Bone. 2008, 42: 19-29. 10.1016\/j.bone.2007.08.029.","journal-title":"Bone"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1750-1172-4-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1750-1172-4-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1750-1172-4-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,1,22]],"date-time":"2019-01-22T21:20:10Z","timestamp":1548192010000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/1750-1172-4-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2,20]]},"references-count":77,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["139"],"URL":"https:\/\/doi.org\/10.1186\/1750-1172-4-5","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,2,20]]},"article-number":"5"}}