Hirschsprung disease
Definition:
References:
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[1]. E G Puffenberger, et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell. 1994 Dec 30;79(7):1257-66. [Content Brief]
[2]. Erin Mundt, et al. Genetics of Hirschsprung disease and anorectal malformations. Semin Pediatr Surg. 2010 May;19(2):107-17. [Content Brief]
[3]. G Romeo, et al. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature. 1994 Jan 27;367(6461):377-8. [Content Brief]
[4]. M Angrist, et al. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat Genet. 1996 Nov;14(3):341-4. [Content Brief]
[5]. Prem Puri, et al. Pathogenesis of Hirschsprung's disease and its variants: recent progress. Semin Pediatr Surg. 2004 Feb;13(1):18-24. [Content Brief]
[6]. R M Hofstra, et al. A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. Am J Hum Genet. 1999 Jan;64(1):304-8. [Content Brief]
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