{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T18:19:22Z","timestamp":1790705962734,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2008,3,17]],"date-time":"2008-03-17T00:00:00Z","timestamp":1205712000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Type 4 Waardenburg syndrome represents a well define entity caused by neural crest derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and peripheral nervous systems) leading, with variable expressivity, to pigmentary anomalies, deafness, mental retardation, peripheral neuropathy, and Hirschsprung disease. Autosomal dominant mode of inheritance is prevalent when <jats:italic>Sox10<\/jats:italic> gene mutation is identified. We report the natural history of a child who presented with synophrys, vivid blue eye, deafness, bilateral complete semicircular canals agenesis with mental retardation, subtle signs for peripheral neuropathy and lack of Hirschsprung disease. <jats:italic>SOX10<\/jats:italic> gene sequencing identified \u201cde novo\u201d splice site mutation (c.698\u20102A\u2009&gt;\u2009C). The present phenotype and the genotype findings underline the wide spectrum of <jats:italic>SOX10<\/jats:italic> gene implication in unusual type 4 Waardenburg syndrome patient. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32247","type":"journal-article","created":{"date-parts":[[2008,3,17]],"date-time":"2008-03-17T19:50:24Z","timestamp":1205783424000},"page":"1038-1041","source":"Crossref","is-referenced-by-count":33,"title":["A de novo <i>SOX10<\/i> mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease"],"prefix":"10.1002","volume":"146A","author":[{"given":"Yves","family":"Sznajer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Cold\u00e9a","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7oise","family":"Meire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Delpierre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tayeb","family":"Sekhara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renaud L.","family":"Touraine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,3,17]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2006.05.007"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(98)00843-6"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.13.1907"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.186601"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh243"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20517"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199909)46:3<313::AID-ANA6>3.0.CO;2-7"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1322"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20151"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320030302"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-5876(01)00443-8"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-171"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20396"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-5876(84)80067-1"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80339-3"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2006.12.003"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/302895"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2005.10.004"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0749.2005.00218.x"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/jb\/mvj177"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32247","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32247","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:24:45Z","timestamp":1697613885000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32247"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,3,17]]},"references-count":20,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2008,4,15]]}},"alternative-id":["10.1002\/ajmg.a.32247"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32247","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,3,17]]}}}