{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T06:23:15Z","timestamp":1770531795111,"version":"3.49.0"},"reference-count":14,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,4]]},"abstract":"<jats:p>The RET and the Pax 3 genes have recently been shown to account for autosomal dominant Hirschsprung's disease (HSCR) and Waardenburg syndrome type 1 (WS1) respectively, which led us to consider them as candidate genes in the WS\/HSCR association. Linkage analyses performed in a consanguineous WS\/HSCR family support the view that neither the RET locus nor the Pax 3 locus are involved in the disease phenotype. Hence, at least one further locus altering neural crest cell development is responsible for the pleiotropic features observed in the WS\/HSCR association.<\/jats:p>","DOI":"10.1136\/jmg.32.4.312","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"312-313","source":"Crossref","is-referenced-by-count":4,"title":["Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease."],"prefix":"10.1136","volume":"32","author":[{"given":"T","family":"Atti\u00e9","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Till","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Pelet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Edery","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J P","family":"Bonnet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Lyonnet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,4,1]]},"reference":[{"issue":"27","key":"ref_1","first-page":"1","article-title":"Stuhltragheit neugeborener infolge von dilatation und hypertrophic des colons","volume":"1888","author":"Hirschsprung, H.","unstructured":"Hirschsprung H. Stuhltragheit neugeborener infolge von dilatation und hypertrophic des colons. Jb Kinderheilkd 1888;27: 1.","journal-title":"Jb Kinderheilkd"},{"key":"ref_2","first-page":"568","article-title":"A genetic study of Hirschprung disease","volume":"46","author":"BadnerJA, Sieber W.K.; KI, Garver; A, Chakravarti","year":"1990","unstructured":"BadnerJA, Sieber WK, Garver KI, Chakravarti A. A genetic study of Hirschprung disease. Am J Hum Genet 1990;46: 568-80.","journal-title":"Am J Hum Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/S0022-3468(67)80085-X","article-title":"Embryogenesis of intramural ganglia of the gut and its relation to Hirschsprung's disease","volume":"2","author":"Okamoto, E.; Ueda, T.","year":"1967","unstructured":"Okamoto E, Ueda T. Embryogenesis of intramural ganglia of the gut and its relation to Hirschsprung's disease. J Pediatr Surg 1967;2:437-43.","journal-title":"J Pediatr Surg"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1038\/ng0893-346","article-title":"A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10","volume":"4","author":"Lyonnet, S.; Bolino, A.; Pelet, A.","year":"1993","unstructured":"Lyonnet S, Bolino A, Pelet A, et al. A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nature Genet 1993;4: 346-50.","journal-title":"Nature Genet"},{"issue":"8 8","key":"ref_5","article-title":"Point mutations affecting the tyrosine kinase domain of the RET protooncogene in Hirschsprung's disease","volume":"367","author":"Romeo, G.; Ronchetto, P.; Luo, Y.","year":"1994","unstructured":"Romeo G, Ronchetto P, Luo Y, et al. Point mutations affecting the tyrosine kinase domain of the RET protooncogene in Hirschsprung's disease. Nature 1994;367: 8 8 Ed3e7r7y-8P.; Lyonnet S, Mulligan LM, et al. Mutations of the","journal-title":"Nature; Ed3e7r7y-8P.; Lyonnet S, Mulligan LM, et al"},{"key":"ref_6","first-page":"195","article-title":"A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness","volume":"3","author":"Waardenburg, P.J.","year":"1951","unstructured":"Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am Jf Hum Genet 1951;3: 195-253.","journal-title":"Am Jf Hum Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/S0046-8177(74)80021-3","article-title":"The neurocristopathies: a unifying concept of disease arising in neural crest maldevelopment","volume":"5","author":"Bolande, R.P.","year":"1973","unstructured":"Bolande RP. The neurocristopathies: a unifying concept of disease arising in neural crest maldevelopment. Hum Pathol 1973;5:409-29.","journal-title":"Hum Pathol"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/S0022-3468(86)80846-6","article-title":"Associated developmental abnormalities of the anterior end of the neural crest: Hirschsprung's disease-Waardenburg's syndrome","volume":"21","author":"Currie, A.B.M.; Haddad, M.; Honeyman, M.; Boddy, S.A.M.","year":"1986","unstructured":"Currie ABM, Haddad M, Honeyman M, Boddy SAM. Associated developmental abnormalities of the anterior end of the neural crest: Hirschsprung's disease-Waardenburg's syndrome. J Pediatr Surg 1986;21:248-50.","journal-title":"J Pediatr Surg"},{"key":"ref_9","first-page":"221","article-title":"Waardenburg's syndrome: a comparison of biometric indices used to diagnose lateral displacement of the inner canthi","volume":"18","author":"Newton, V.E.","year":"1989","unstructured":"Newton VE, Waardenburg's syndrome: a comparison of biometric indices used to diagnose lateral displacement of the inner canthi. ScandAudiol 1989;18:221-3.","journal-title":"ScandAudiol"},{"key":"ref_10","first-page":"244","article-title":"Hirschsprung disease. An appraisal of histochemically demonstrated acetylcholinesterase activity in suction biopsy specinens as an aid to diagnosis","volume":"102","author":"Lake, B.D.; Puri, P.; Nixon, H.H.","year":"1978","unstructured":"Lake BD, Puri P, Nixon HH, et al. Hirschsprung disease. An appraisal of histochemically demonstrated acetylcholinesterase activity in suction biopsy specinens as an aid to diagnosis. Arch Pathol Lab Med 1978;102:244-7.","journal-title":"Arch Pathol Lab Med"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1002\/ajmg.1320350119","article-title":"Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene","volume":"35","author":"Badner, J.A.; Chakravarti, A.","year":"1990","unstructured":"Badner JA, Chakravarti A. Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene. Am JMed Genet 1990;35:100-4.","journal-title":"Am JMed Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1093\/oxfordjournals.jhered.a107457","article-title":"Association of megacolon with two recessive spotting genes in the mouse","volume":"57","author":"Lane, P.W.","year":"1966","unstructured":"Lane PW. Association of megacolon with two recessive spotting genes in the mouse. J Hered 1966;57:29-31.","journal-title":"J Hered"},{"key":"ref_13","first-page":"189","article-title":"Animal model of human disease: aganglionic megacolon in Piebald and Spotted mutant mouse strains. mT A Pathol","volume":"79","author":"Bolande, R.P.","year":"1975","unstructured":"Bolande RP. Animal model of human disease: aganglionic megacolon in Piebald and Spotted mutant mouse strains. mT A Pathol 1975;79:189-92."},{"key":"ref_14","first-page":"351","article-title":"Aganglionosis in rodents","volume-title":"I Pediatr Surg","volume":"27","author":"Cass, D.T.; Ling, Z.; Morthrope, J.","year":"1992","unstructured":"Cass DT, Ling Z, Morthrope J. Aganglionosis in rodents. I Pediatr Surg 1992;27:351."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.32.4.312","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:17:06Z","timestamp":1760771826000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.32.4.312"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,4]]},"references-count":14,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1995,4,1]]},"published-print":{"date-parts":[[1995,4]]}},"alternative-id":["10.1136\/jmg.32.4.312"],"URL":"https:\/\/doi.org\/10.1136\/jmg.32.4.312","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,4]]}}}