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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.

DOI:10.1007/BF00527397
PMID:908562
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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Hirschsprung's disease and the brain.先天性巨结肠症与大脑

本文引用的文献

1
Hirschsprung's disease and congenital deafness.先天性巨结肠症与先天性耳聋。
J Med Genet. 1973 Dec;10(4):337-9. doi: 10.1136/jmg.10.4.337.
2
The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families.
N Engl J Med. 1967 Jan 19;276(3):138-43. doi: 10.1056/NEJM196701192760303.
3
Letter: Hirschsprung's disease and congenital deafness.信件：先天性巨结肠症与先天性耳聋
J Med Genet. 1975 Mar;12(1):114-5. doi: 10.1136/jmg.12.1.114-a.
Pediatr Surg Int. 2011 Apr;27(4):347-52. doi: 10.1007/s00383-010-2807-y. Epub 2010 Dec 5.
4
The contribution of associated congenital anomalies in understanding Hirschsprung's disease.相关先天性异常在理解先天性巨结肠症中的作用。
Pediatr Surg Int. 2006 Apr;22(4):305-15. doi: 10.1007/s00383-006-1655-2. Epub 2006 Mar 4.
5
Hirschsprung disease, associated syndromes, and genetics: a review.先天性巨结肠症、相关综合征与遗传学：综述
J Med Genet. 2001 Nov;38(11):729-39. doi: 10.1136/jmg.38.11.729.
6
Hirschsprung's disease, distinctive facies, and microcephaly.先天性巨结肠、特殊面容和小头畸形。
J Med Genet. 1989 Apr;26(4):287-8. doi: 10.1136/jmg.26.4.287.