Article
Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.
Journal of medical genetics - 1 Aug 1994
Edery P, Pelet A, Mulligan L M, Abel L, Attié T, Dow E, Bonneau D, David A, Flintoff W, Jan D
Abstract excerpt
Hirschsprung's disease (aganglionic megacolon, HSCR) is a frequent condition of unknown origin (1/5000 live births) resulting in intestinal obstruction in neonates and severe constipation in infants and adults. In the majority of cases (80%), the aganglionic tract involves the rectum and the sigmoid colon only (short segment HSCR), while in 20% of cases it extends toward the proximal end of the colon (long...
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