{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T12:05:44Z","timestamp":1762603544954},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2005,10,20]],"date-time":"2005-10-20T00:00:00Z","timestamp":1129766400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ped Surgery Int"],"published-print":{"date-parts":[[2005,12]]},"DOI":"10.1007\/s00383-005-1553-z","type":"journal-article","created":{"date-parts":[[2005,10,19]],"date-time":"2005-10-19T09:26:33Z","timestamp":1129713993000},"page":"960-963","source":"Crossref","is-referenced-by-count":12,"title":["Novel mutation of Endothelin-B receptor gene in Waardenburg\u2013Hirschsprung disease"],"prefix":"10.1007","volume":"21","author":[{"given":"Surasak","family":"Sangkhathat","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piyawan","family":"Chiengkriwate","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Kusafuka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sakda","family":"Patrapinyokul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiro","family":"Fukuzawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2005,10,20]]},"reference":[{"key":"1553_CR1","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/S0022-3476(81)80339-3","volume":"99","author":"KN Shah","year":"1981","unstructured":"Shah KN, Dalal SJ, Desai MP et al (1981) White forelock, pigmentary disorder of irides, and long segment Hirshsprung\u2019s disease: possible variant of Waardenburg syndrome. J Pediatr 99:432\u2013435","journal-title":"J Pediatr"},{"key":"1553_CR2","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1002\/ajmg.1320350119","volume":"35","author":"JA Badner","year":"1990","unstructured":"Badner JA, Chakravarti A (1990) Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene. Am J Med Genet 35:100\u2013104","journal-title":"Am J Med Genet"},{"key":"1553_CR3","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1136\/jmg.34.8.656","volume":"34","author":"AP Read","year":"1997","unstructured":"Read AP, Newton VE (1997) Waardenburg syndrome. J Med Genet 34:656\u2013665","journal-title":"J Med Genet"},{"key":"1553_CR4","doi-asserted-by":"crossref","first-page":"1257","DOI":"10.1016\/0092-8674(94)90016-7","volume":"79","author":"EG Puffenberger","year":"1994","unstructured":"Puffenberger EG, Hosoda K, Washington SS et al (1994) A missense mutation of the endothelin-B receptor in multigenic Hirschsprung\u2019s disease. Cell 79:1257\u20131266","journal-title":"Cell"},{"key":"1553_CR5","doi-asserted-by":"crossref","first-page":"2407","DOI":"10.1093\/hmg\/4.12.2407","volume":"4","author":"T Attie","year":"1995","unstructured":"Attie T, Till M, Pelet A et al (1995) Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. Hum Mol Genet 4:2407\u20132409","journal-title":"Hum Mol Genet"},{"key":"1553_CR6","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1136\/jmg.38.9.646","volume":"38","author":"JP Broadman","year":"2001","unstructured":"Broadman JP, Syrris P, Holder SE et al (2001) A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenberg syndrome and Down syndrome. J Med Genet 38:646\u2013647","journal-title":"J Med Genet"},{"key":"1553_CR7","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1038\/ng0496-442","volume":"12","author":"P Edery","year":"1996","unstructured":"Edery P, Attie T, Amiel J et al (1996) Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet 12:442\u2013444","journal-title":"Nat Genet"},{"key":"1553_CR8","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1038\/ng0496-445","volume":"12","author":"RM Hofstra","year":"1996","unstructured":"Hofstra RM, Osinga J, Tan-Sindhunata G et al (1996) A homozygous mutation in the endothelin-3 gene associated with a combined Waardenberg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet 12:445\u2013447","journal-title":"Nat Genet"},{"key":"1553_CR9","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/ng0298-171","volume":"18","author":"V Pingault","year":"1998","unstructured":"Pingault V, Bondurand N, Kuhlbrodt K et al (1998) SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 18:171\u2013173","journal-title":"Nat Genet"},{"key":"1553_CR10","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1034\/j.1600-0749.2001.140305.x","volume":"14","author":"AS Mccallion","year":"2001","unstructured":"Mccallion AS, Chakravarti A (2001) EDNRB\/EDN3 and Hirschsprung disease type II. Pigment Cell Res 14:161\u2013169","journal-title":"Pigment Cell Res"},{"key":"1553_CR11","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/S0022-3468(97)90616-3","volume":"32","author":"T Kusafuka","year":"1997","unstructured":"Kusafuka T, Wang Y, Puri P (1997) Mutation analysis of the RET, the endothelin-B receptor and the endothelin-3 genes in sporadic cases of Hirschsprung\u2019s disease. J Pediatr Surg 32:501\u2013504","journal-title":"J Pediatr Surg"},{"key":"1553_CR12","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1016\/S0022-3468(98)90151-8","volume":"33","author":"M Inoue","year":"1998","unstructured":"Inoue M, Hosoda K, Imura K et al (1998) Mutational analysis of the endothelin-B receptor gene in Japanese Hirschsprung\u2019s disease. J Pediatr Surg 33:1206\u20131208","journal-title":"J Pediatr Surg"},{"key":"1553_CR13","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1016\/0092-8674(94)90017-5","volume":"79","author":"K Hosoda","year":"1994","unstructured":"Hosoda K, Hammer RE, Richardson JA et al (1994) Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 79:1267\u20131276","journal-title":"Cell"},{"key":"1553_CR14","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1016\/0092-8674(94)90018-3","volume":"79","author":"AG Baynash","year":"1994","unstructured":"Baynash AG, Hosoda K, Giaid A et al (1994) Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 79:1277\u20131285","journal-title":"Cell"},{"key":"1553_CR15","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1093\/hmg\/5.3.347","volume":"5","author":"T Kusafuka","year":"1996","unstructured":"Kusafuka T, Wang Y, Puri P (1996) Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung\u2019s disease. Hum Mol Genet 5:347\u2013349","journal-title":"Hum Mol Genet"},{"key":"1553_CR16","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1093\/hmg\/3.8.1217","volume":"2","author":"EG Puffernberger","year":"1994","unstructured":"Puffernberger EG, Kauffmann ER, Bolk S et al (1994) Identity-by-descent and association of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet 2:1217\u20131225","journal-title":"Hum Mol Genet"},{"key":"1553_CR17","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1093\/hmg\/5.3.355","volume":"5","author":"J Amiel","year":"1996","unstructured":"Amiel J, Attie T, Jan D et al (1996) Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum Mol Genet 5:355\u2013357","journal-title":"Hum Mol Genet"},{"key":"1553_CR18","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1002\/(SICI)1096-8628(19991105)87:1<69::AID-AJMG14>3.0.CO;2-R","volume":"87","author":"P Syrris","year":"1999","unstructured":"Syrris P, Carter ND, Patton MA (1999) Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease. Am J Med Genet 87:69\u201371","journal-title":"Am J Med Genet"},{"key":"1553_CR19","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1002\/ajmg.1451","volume":"102","author":"A Shanske","year":"2001","unstructured":"Shanske A, Ferreira JC, Leonard JC et al (2001) Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13. Am J Med Genet 102:231\u2013236","journal-title":"Am J Med Genet"}],"container-title":["Pediatric Surgery International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00383-005-1553-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00383-005-1553-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00383-005-1553-z","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T11:48:44Z","timestamp":1559044124000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00383-005-1553-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,10,20]]},"references-count":19,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2005,12]]}},"alternative-id":["1553"],"URL":"https:\/\/doi.org\/10.1007\/s00383-005-1553-z","relation":{},"ISSN":["0179-0358","1437-9813"],"issn-type":[{"value":"0179-0358","type":"print"},{"value":"1437-9813","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,10,20]]}}}