Literature DB >> 3621664

Three-generation transmission of Hirschsprung's disease.

A H Lipson, J Harvey.   

Abstract

A three-generation family with non-syndromic biopsy-proven Hirschsprung's disease involving both short and long segments of the large bowel is reported. Although this is the first three-generation family reported, it is expected that with the improved diagnosis and treatment that has occurred over the last 30 years further such families will be described, and that the heritability of this condition will be further clarified.

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Mesh：

Year:  1987        PMID： 3621664     DOI： 10.1111/j.1399-0004.1987.tb03350.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  5 in total

Review 1.  Hirschsprung's disease--a review.

Authors:  C M Doig
Journal:  Int J Colorectal Dis       Date:  1991-02       Impact factor: 2.571

2.  A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus.

Authors:  A Bottani; Y G Xie; F Binkert; A Schinzel
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

3.  A genetic study of Hirschsprung disease.

Authors:  J A Badner; W K Sieber; K L Garver; A Chakravarti
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

4.  Hirschsprung disease: paternal transmission to a son.

Authors:  H Skopnik; U Beudt; G Steinau; W Meier-Ruge; M Habedank
Journal:  Eur J Pediatr       Date:  1993-06       Impact factor: 3.183

5.  Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

Authors:  P Edery; A Pelet; L M Mulligan; L Abel; T Attié; E Dow; D Bonneau; A David; W Flintoff; D Jan
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318
  5 in total

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