Hirschsprung's disease and congenital deafness - Familial Association

Arthur G. Weinberg; Guido Currarino; Abraham M. Besserman

doi:10.1007/BF00527397

Hirschsprung's disease and congenital deafness - Familial Association

Arthur G. Weinberg, Guido Currarino, Abraham M. Besserman

Pathology

Research output: Contribution to journal › Article › peer-review

21 Scopus citations

Abstract

A family is described showing deafness in three consecutive generations. Hirschsprung's disease was present in at least two of the affected patients and a history of bowel dysfunction was present in the third. The association 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.

Original language	English (US)
Pages (from-to)	157-161
Number of pages	5
Journal	Human genetics
Volume	38
Issue number	2
DOIs	https://doi.org/10.1007/BF00527397
State	Published - Jan 1977

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Hirschsprung's disease and congenital deafness - Familial Association",

abstract = "A family is described showing deafness in three consecutive generations. Hirschsprung's disease was present in at least two of the affected patients and a history of bowel dysfunction was present in the third. The association 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.",

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AB - A family is described showing deafness in three consecutive generations. Hirschsprung's disease was present in at least two of the affected patients and a history of bowel dysfunction was present in the third. The association 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.

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Hirschsprung's disease and congenital deafness - Familial Association

Abstract

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