Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the geneZFHX1B (SIP1): Confirmation of the Mowat-Wilson syndrome-Reference-Cited by-同舟云学术

Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the geneZFHX1B (SIP1): Confirmation of the Mowat-Wilson syndrome

Published:2003-01-09 Issue:4 Volume:116A Page:385-388
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Garavelli L.,Donadio A.,Zanacca C.,Banchini G.,Della Giustina E.,Bertani G.,Albertini G.,Del Rossi C.,Rauch A.,Zweier C.,Zollino M.,Neri G.

Publisher

Wiley

Subject

Genetics (clinical)

Reference24 articles.

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

2. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

3. Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease

4. Nager acrofacial dysostosis: Male-to-male transmission in 2 families

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