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Hirschsprung's disease and congenital deafness. Familial assocation.

作者信息

Weinberg A G, Currarino G, Besserman A M

出版信息

Hum Genet. 1977 Sep 22;38(2):157-61. doi: 10.1007/BF00527397.

Abstract

A family is described showing deafness in three consecutive generations. Hirshchsprung's disease was present in at least two of the affected patients and a history of bowel dysfunction was present in the third. The assocation of the two disorders in this family may be due to a single autosomal dominant gene and in this regard differs from previously reported isolated patients with Hirschsprung's disease and deafness.

摘要

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