{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T14:29:47Z","timestamp":1768919387982,"version":"3.49.0"},"reference-count":15,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2013,1]]},"DOI":"10.1016\/j.ejmg.2012.10.010","type":"journal-article","created":{"date-parts":[[2012,10,30]],"date-time":"2012-10-30T20:15:36Z","timestamp":1351628136000},"page":"32-35","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":29,"title":["Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia"],"prefix":"10.1016","volume":"56","author":[{"given":"Andr\u00e9","family":"M\u00e9garban\u00e9","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Pangrazio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Villa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eliane","family":"Chouery","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph","family":"Maarawi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Sabbagh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00e9rard","family":"Lefranc","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Sobacchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2012.10.010_bib1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00223-008-9196-4","article-title":"Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor","volume":"84","author":"Villa","year":"2009","journal-title":"Calcif. Tissue Int."},{"key":"10.1016\/j.ejmg.2012.10.010_bib2","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1359\/jbmr.090733","article-title":"A\u00a0new familial sclerosing bone dysplasia","volume":"25","author":"Chouery","year":"2010","journal-title":"J.\u00a0Bone Miner. Res."},{"key":"10.1016\/j.ejmg.2012.10.010_bib3","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1136\/jmedgenet-2011-100520","article-title":"An SNX10 mutation causes malignant osteopetrosis of infancy","volume":"49","author":"Aker","year":"2012","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2012.10.010_bib4","doi-asserted-by":"crossref","first-page":"1767","DOI":"10.1093\/hmg\/10.17.1767","article-title":"The mutational spectrum of human malignant autosomal recessive osteopetrosis","volume":"10","author":"Sobacchi","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2012.10.010_bib5","doi-asserted-by":"crossref","first-page":"1740","DOI":"10.1359\/jbmr.2003.18.10.1740","article-title":"Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis","volume":"18","author":"Frattini","year":"2003","journal-title":"J.\u00a0Bone Miner. Res."},{"key":"10.1016\/j.ejmg.2012.10.010_bib6","doi-asserted-by":"crossref","first-page":"1098","DOI":"10.1359\/jbmr.060403","article-title":"Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement","volume":"21","author":"Pangrazio","year":"2006","journal-title":"J.\u00a0Bone Miner. Res."},{"key":"10.1016\/j.ejmg.2012.10.010_bib7","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1038\/ng2076","article-title":"Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL","volume":"39","author":"Sobacchi","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2012.10.010_bib8","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1172\/JCI30328","article-title":"Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans","volume":"117","author":"Van Wesenbeeck","year":"2007","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.ejmg.2012.10.010_bib9","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.ajhg.2008.06.015","article-title":"Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations","volume":"83","author":"Guerrini","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2012.10.010_bib10","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1038\/nrm974","article-title":"Sorting out the cellular functions of sorting nexins","volume":"3","author":"Worby","year":"2002","journal-title":"Nat. Rev. Mol. Cell. Biol."},{"key":"10.1016\/j.ejmg.2012.10.010_bib11","doi-asserted-by":"crossref","first-page":"36891","DOI":"10.1074\/jbc.M608884200","article-title":"Sorting nexin 10 induces giant vacuoles in mammalian cells","volume":"281","author":"Qin","year":"2006","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ejmg.2012.10.010_bib12","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/cr.2011.134","article-title":"A\u00a0SNX10\/V-ATPase pathway regulates ciliogenesis in\u00a0vitro and in\u00a0vivo","volume":"22","author":"Chen","year":"2012","journal-title":"Cell. Res."},{"key":"10.1016\/j.ejmg.2012.10.010_bib13","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1002\/jcb.24029","article-title":"SNX10 is required for osteoclast formation and resorption activity","volume":"113","author":"Zhu","year":"2012","journal-title":"J.\u00a0Cell. Biochem."},{"key":"10.1016\/j.ejmg.2012.10.010_bib14","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1159\/000120923","article-title":"Association of infantile neuroaxonal dystrophy and osteopetrosis: a rare autosomal recessive disorder","volume":"22","author":"Rees","year":"1995","journal-title":"Pediatr. Neurosurg."},{"key":"10.1016\/j.ejmg.2012.10.010_bib15","first-page":"528","article-title":"Association of severe autosomal recessive osteopetrosis and Dandy\u2013Walker syndrome with agenesis of the corpus callosum","volume":"67","author":"Ben Hamouda","year":"2001","journal-title":"Acta Orthop. Belg."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721212002881?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721212002881?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:39:40Z","timestamp":1761709180000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721212002881"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,1]]}},"alternative-id":["S1769721212002881"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2012.10.010","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2013,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2012.10.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}