Literature DB >> 908562

Hirschsprung's disease and congenital deafness. Familial assocation.

A G Weinberg, G Currarino, A M Besserman.   

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.

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Year:  1977        PMID: 908562     DOI: 10.1007/bf00527397

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  3 in total

1.  Letter: Hirschsprung's disease and congenital deafness.

Authors:  R B Lowry
Journal:  J Med Genet       Date:  1975-03       Impact factor: 6.318

2.  The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families.

Authors:  E Passarge
Journal:  N Engl J Med       Date:  1967-01-19       Impact factor: 91.245

3.  Hirschsprung's disease and congenital deafness.

Authors:  R Skinner; D Irvine
Journal:  J Med Genet       Date:  1973-12       Impact factor: 6.318

  3 in total
  5 in total

Review 1.  Hirschsprung disease, associated syndromes, and genetics: a review.

Authors:  J Amiel; S Lyonnet
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

2.  Hirschsprung's disease, distinctive facies, and microcephaly.

Authors:  A Bankier
Journal:  J Med Genet       Date:  1989-04       Impact factor: 6.318

Review 3.  Hirschsprung's disease and the brain.

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2010-12-05       Impact factor: 1.827

Review 4.  Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2012-09-23       Impact factor: 1.827

Review 5.  The contribution of associated congenital anomalies in understanding Hirschsprung's disease.

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2006-03-04       Impact factor: 1.827

  5 in total

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