Literature DB >> 484594

The association of Waardenburg syndrome and Hirschsprung megacolon.

G S Omenn, V A McKusick.   

Abstract

We describe four patients with Waardenburg syndrome and Hirschsprung aganglionic megacolon. In view of pathophysiologic relationships and animal studies, we conclude that the association of these two uncommon disorders is pathophysiologically significant.

Entities:  

Mesh：

Year:  1979        PMID： 484594     DOI： 10.1002/ajmg.1320030302

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  25 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.  [Genetic bases of Hirschsprung's disease].

Authors:  E Passarge; E Bruder
Journal:  Pathologe       Date:  2007-03       Impact factor: 1.011

3.  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

4.  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

Review 5.  Hirschsprung's disease as a neurochristopathy.

Authors:  G Martucciello
Journal:  Pediatr Surg Int       Date:  1997       Impact factor: 1.827

6.  Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.

Authors:  R Gath; A Goessling; K M Keller; S Koletzko; W Coerdt; H Müntefering; S Wirth; R M Hofstra; L Mulligan; C Eng; A von Deimling
Journal:  Gut       Date:  2001-05       Impact factor: 23.059

7.  Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.

Authors:  J A Hurst; M Markiewicz; D Kumar; E M Brett
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

8.  Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.

Authors:  T Attié; M Till; A Pelet; P Edery; J P Bonnet; A Munnich; S Lyonnet
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

9.  Anal atresia and the Klein-Waardenburg syndrome.

Authors:  J Nutman; I Nissenkorn; I Varsano; M Mimouni; R M Goodman
Journal:  J Med Genet       Date:  1981-06       Impact factor: 6.318

Review 10.  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
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