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23. Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease. Syrris P, Carter ND, Patton MA. Am J Med Genet; 1999 Nov 05; 87(1):69-71. PubMed ID: 10528251 [Abstract] [Full Text] [Related]
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25. Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Amiel J, Attié T, Jan D, Pelet A, Edery P, Bidaud C, Lacombe D, Tam P, Simeoni J, Flori E, Nihoul-Fékété C, Munnich A, Lyonnet S. Hum Mol Genet; 1996 Mar 05; 5(3):355-7. PubMed ID: 8852660 [Abstract] [Full Text] [Related]
26. Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype. Hofstra RM, Osinga J, Buys CH. Eur J Hum Genet; 1997 Mar 05; 5(4):180-5. PubMed ID: 9359036 [Abstract] [Full Text] [Related]
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34. Neuroglial disorders of central and peripheral nervous systems in a patient with Hirschsprung's disease carrying allelic SOX10 truncating mutation. Shimotake T, Tanaka S, Fukui R, Makino S, Maruyama R. J Pediatr Surg; 2007 Apr 05; 42(4):725-31. PubMed ID: 17448776 [Abstract] [Full Text] [Related]
35. A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? Pingault V, Bondurand N, Lemort N, Sancandi M, Ceccherini I, Hugot JP, Jouk PS, Goossens M. J Med Genet; 2001 Mar 05; 38(3):205-9. PubMed ID: 11303518 [No Abstract] [Full Text] [Related]
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40. Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling. Fuchs S, Amiel J, Claudel S, Lyonnet S, Corvol P, Pinet F. Mol Med; 2001 Feb 01; 7(2):115-24. PubMed ID: 11471546 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]