{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T07:23:04Z","timestamp":1791271384063,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2002,1,17]],"date-time":"2002-01-17T00:00:00Z","timestamp":1011225600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and deafness. This phenotype clearly overlaps with the features of the Shah\u2010Waardenburg syndrome, comprising sensorineural deafness; hypopigmentation of skin, hair, and irides; and HSCR. Therefore, we screened DNA of the index patient of the ABCD syndrome family for mutations in the endothelin B receptor (<jats:italic>EDNRB<\/jats:italic>) gene, a gene known to be involved in Shah\u2010Waardenburg syndrome. A homozygous nonsense mutation in exon 3 (R201X) of the <jats:italic>EDNRB<\/jats:italic> gene was found. We therefore suggest that ABCD syndrome is not a separate entity, but an expression of Shah\u2010Waardenburg syndrome. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10172","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T23:09:26Z","timestamp":1030316966000},"page":"223-225","source":"Crossref","is-referenced-by-count":43,"title":["ABCD syndrome is caused by a homozygous mutation in the <i>EDNRB<\/i> gene"],"prefix":"10.1002","volume":"108","author":[{"given":"Joke B.G.M.","family":"Verheij","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen","family":"Kunze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Osinga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthonie J.","family":"van Essen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert M.W.","family":"Hofstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,1,17]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.3.355"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.12.2407"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.3.351"},{"key":"e_1_2_5_5_1","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1159\/000484771","article-title":"Endothelin\u20103 gene mutations in isolated and syndromic Hirschsprung disease","volume":"5","author":"Bidaud C","year":"1997","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.9.646"},{"key":"e_1_2_5_7_1","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1542\/peds.63.5.803","article-title":"Hirschsprung's disease and Waardenburg's syndrome","volume":"63","author":"Branski D","year":"1979","journal-title":"Pediatrics"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496-442"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560322"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496-445"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.3.347"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197303292881321"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320030302"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-171"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.3.205"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90016-7"},{"key":"e_1_2_5_17_1","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1101\/gr.9.3.215","article-title":"The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg\u2010 Shah (WS4) syndrome","volume":"9","author":"Southard\u2010Smith EM","year":"1999","journal-title":"Genome Res"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991105)87:1<69::AID-AJMG14>3.0.CO;2-R"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1086\/302895"},{"key":"e_1_2_5_20_1","first-page":"330","article-title":"Depigmentations of the general and oral tissues and their genetic foundations","volume":"16","author":"Witkop CJ","year":"1979","journal-title":"Ala J Med Sci"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10172","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10172","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T12:54:22Z","timestamp":1700225662000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10172"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,1,17]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2002,3,15]]}},"alternative-id":["10.1002\/ajmg.10172"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10172","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,1,17]]}}}