Genitourinary Anomalies in Mowat-Wilson Syndrome with Deletion/Mutation in the Zinc Finger Homeo Box 1B Gene (ZFHX1B)-Reference-Cited by-同舟云学术

Genitourinary Anomalies in Mowat-Wilson Syndrome with Deletion/Mutation in the Zinc Finger Homeo Box 1B Gene (ZFHX1B)

Published:2005 Issue:4 Volume:63 Page:187-192
ISSN:1663-2818
Container-title:Hormone Research in Paediatrics
language:en
Short-container-title:Horm Res Paediatr

Author:

Garavelli L.,Cerruti-Mainardi P.,Virdis R.,Pedori S.,Pastore G.,Godi M.,Provera S.,Rauch A.,Zweier C.,Zollino M.,Banchini G.,Longo N.,Mowat D.,Neri G.,Bernasconi S.

Publisher

S. Karger AG

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Reference29 articles.

1. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

2. Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

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

4. ?Mowat-Wilson? syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

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