{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T13:44:52Z","timestamp":1791121492972,"version":"4.1.0"},"reference-count":6,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,7,15]],"date-time":"2013-07-15T00:00:00Z","timestamp":1373846400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,5]]},"abstract":"Split hand\/foot malformation (SHFM<\/jats:styled-content>) with long\u2010bone deficiency (SHFLD<\/jats:styled-content>, MIM<\/jats:styled-content>#119100) is a rare condition characterized by SHFM<\/jats:styled-content> associated with long\u2010bone malformation usually involving the tibia. Previous published data reported several unrelated patients with 17p13.3 duplication and SHFLD<\/jats:styled-content>. Recently, the minimal critical region had been reduced, suggesting that BHLHA9<\/jats:styled-content><\/jats:italic> copy number gains are associated with this limb defect. Here, we report on 13 new families presenting with ectrodactyly and harboring a BHLHA9<\/jats:styled-content><\/jats:italic> duplication.<\/jats:p>","DOI":"10.1111\/cge.12219","type":"journal-article","created":{"date-parts":[[2013,6,21]],"date-time":"2013-06-21T18:40:41Z","timestamp":1371840041000},"page":"464-469","source":"Crossref","is-referenced-by-count":24,"title":["Split hand\/foot malformation with long\u2010bone deficiency and BHLHA9<\/scp><\/i> duplication: report of 13 new families"],"prefix":"10.1111","volume":"85","author":[{"given":"F.","family":"Petit","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique H\u00f4pital Jeanne de Flandre, CHRU Lille Lille France"},{"name":"Universit\u00e9 Lille Nord de France Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.\u2010S.","family":"Jourdain","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie et Biologie Mol\u00e9culaire Centre de Biologie Pathologie, CHRU Lille Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Andrieux","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital Jeanne de Flandre, CHRU Lille Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Baujat","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, Fondation Imagine CHU Necker\u2010Enfants malades, AP\u2010HP Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Baumann","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique H\u00f4pital Robert Debr\u00e9, CHU Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Beneteau","sequence":"additional","affiliation":[{"name":"CHU Nantes Service de G\u00e9n\u00e9tique M\u00e9dicale Nantes 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