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A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).
Hofstra RM, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP, van Ravenswaaij-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CH. Hofstra RM, et al. Among authors: chakravarti a. Nat Genet. 1996 Apr;12(4):445-7. doi: 10.1038/ng0496-445. Nat Genet. 1996. PMID: 8630503 Free article.
A genetic study of Hirschsprung disease.
Badner JA, Sieber WK, Garver KL, Chakravarti A. Badner JA, et al. Among authors: chakravarti a. Am J Hum Genet. 1990 Mar;46(3):568-80. Am J Hum Genet. 1990. PMID: 2309705 Free PMC article.
925 results