Clinical features and management issues in Mowat–Wilson syndrome-Reference-Cited by-同舟云学术

Clinical features and management issues in Mowat–Wilson syndrome

Published:2006 Issue:24 Volume:140A Page:2730-2741
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Adam Margaret P.,Schelley Susan,Gallagher Renata,Brady April N.,Barr Kimberly,Blumberg Bruce,Shieh Joseph T.C.,Graham John,Slavotinek Anne,Martin Madelena,Keppler-Noreuil Kim,Storm Andrea L.,Hudgins Louanne

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference21 articles.

1. Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures

2. A family study of Hirschsprung's disease

3. Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

4. Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of hirschsprung disease

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