{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T12:48:02Z","timestamp":1791118082647,"version":"4.1.0"},"reference-count":37,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2001,3,1]]},"DOI":"10.1136\/jmg.38.3.205","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:34:46Z","timestamp":1027751686000},"page":"205-209","source":"Crossref","is-referenced-by-count":47,"title":["A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of<i>EDN3<\/i>\/<i>EDNRB<\/i> gene mutations on neurocristopathy phenotypes?"],"prefix":"10.1136","volume":"38","author":[{"given":"V\u00c9RONIQUE","family":"PINGAULT","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"NAD\u00c8GE","family":"BONDURAND","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"NICOLE","family":"LEMORT","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MONICA","family":"SANCANDI","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ISABELLA","family":"CECCHERINI","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JEAN-PIERRE","family":"HUGOT","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"PIERRE-SIMON","family":"JOUK","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MICHEL","family":"GOOSSENS","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2001,3,1]]},"reference":[{"key":"2025101800274962000_38.3.205.1","first-page":"568","article-title":"A genetic study of Hirschsprung disease.","volume":"46","author":"Badner","year":"1990","journal-title":"Am J Hum Genet"},{"key":"2025101800274962000_38.3.205.2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.5.821"},{"key":"2025101800274962000_38.3.205.3","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.8.1381"},{"key":"2025101800274962000_38.3.205.4","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1159\/000472371","article-title":"Heterogeneity and low detection rate of RET mutations in Hirschsprung disease.","volume":"2","author":"Yin","year":"1994","journal-title":"Eur J Hum Genet"},{"key":"2025101800274962000_38.3.205.5","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-341"},{"key":"2025101800274962000_38.3.205.6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.12.2023"},{"key":"2025101800274962000_38.3.205.7","first-page":"560","article-title":"Germline mutations of the RET ligand, GDNF, are not sufficient to cause Hirschsprung disease.","volume":"379","author":"Salomon","year":"1996","journal-title":"Nat Genet"},{"key":"2025101800274962000_38.3.205.8","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.3.351"},{"key":"2025101800274962000_38.3.205.9","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.3.355"},{"key":"2025101800274962000_38.3.205.10","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.3.347"},{"key":"2025101800274962000_38.3.205.11","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1203\/00006450-199905010-00018","article-title":"A heterozygous frameshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung's disease.","volume":"45","author":"Svensson","year":"1999","journal-title":"Pediatr Res"},{"key":"2025101800274962000_38.3.205.12","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1159\/000484771","article-title":"Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.","volume":"5","author":"Bidaud","year":"1997","journal-title":"Eur J Hum Genet"},{"key":"2025101800274962000_38.3.205.13","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.8.656"},{"key":"2025101800274962000_38.3.205.14","doi-asserted-by":"crossref","first-page":"2231","DOI":"10.1093\/hmg\/4.11.2131","article-title":"The mutational spectrum in Waardenburg syndrome.","volume":"4","author":"Tassabehji","year":"1995","journal-title":"Hum Mol Genet"},{"key":"2025101800274962000_38.3.205.15","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/S0022-3476(81)80339-3","article-title":"White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome.","volume":"99","author":"Shah","year":"1981","journal-title":"J Pediatr"},{"key":"2025101800274962000_38.3.205.16","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90016-7"},{"key":"2025101800274962000_38.3.205.17","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.12.2407"},{"key":"2025101800274962000_38.3.205.18","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496-445"},{"key":"2025101800274962000_38.3.205.19","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496-442"},{"key":"2025101800274962000_38.3.205.20","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-171"},{"key":"2025101800274962000_38.3.205.21","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90425-1"},{"key":"2025101800274962000_38.3.205.22","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.8.2863"},{"key":"2025101800274962000_38.3.205.23","doi-asserted-by":"publisher","DOI":"10.1038\/332411a0"},{"key":"2025101800274962000_38.3.205.24","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90018-3"},{"key":"2025101800274962000_38.3.205.25","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90017-5"},{"key":"2025101800274962000_38.3.205.26","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.18.11378"},{"key":"2025101800274962000_38.3.205.27","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991105)87:1<69::AID-AJMG14>3.0.CO;2-R"},{"key":"2025101800274962000_38.3.205.28","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1159\/000484760","article-title":"Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype.","volume":"5","author":"Hofstra","year":"1997","journal-title":"Eur J Hum Genet"},{"key":"2025101800274962000_38.3.205.29","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/S0022-3468(00)80031-7","article-title":"Incidence of RET mutations in patients with Hirschsprung's disease.","volume":"35","author":"Sancandi","year":"2000","journal-title":"J Pediatr Surg"},{"key":"2025101800274962000_38.3.205.30","first-page":"3025","article-title":"DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.","volume":"9","author":"Ceccherini","year":"1994","journal-title":"Oncogene"},{"key":"2025101800274962000_38.3.205.31","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1202418"},{"key":"2025101800274962000_38.3.205.32","doi-asserted-by":"crossref","first-page":"18156","DOI":"10.1016\/S0021-9258(19)84690-2","article-title":"cDNA cloning and chromosomal assignment of the gene encoding endothelin 3.","volume":"264","author":"Bloch","year":"1989","journal-title":"J Biol Chem"},{"key":"2025101800274962000_38.3.205.33","doi-asserted-by":"publisher","DOI":"10.1210\/jc.75.6.1545"},{"key":"2025101800274962000_38.3.205.34","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.9.3923"},{"key":"2025101800274962000_38.3.205.35","doi-asserted-by":"publisher","DOI":"10.1038\/ng0896-395"},{"key":"2025101800274962000_38.3.205.36","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.1.268"},{"key":"2025101800274962000_38.3.205.37","first-page":"37","article-title":"Loss of function mutation in the endothelin converting enzyme 1 (ECE1) in a patient with Hirschsprung disease and cardiac defects.","volume":"6","author":"Hofstra","year":"1998","journal-title":"Eur J Hum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.38.3.205","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:28:01Z","timestamp":1760772481000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.38.3.205"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,3,1]]},"references-count":37,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2001,3,1]]},"published-print":{"date-parts":[[2001,3,1]]}},"alternative-id":["10.1136\/jmg.38.3.205"],"URL":"https:\/\/doi.org\/10.1136\/jmg.38.3.205","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,3,1]]}}}