Mutations inPOMT1 are found in a minority of patients with Walker-Warburg syndrome-Reference-Cited by-同舟云学术

Mutations inPOMT1 are found in a minority of patients with Walker-Warburg syndrome

Published:2005 Issue:1 Volume:133A Page:53-57
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Currier Sophie C.,Lee Christine K.,Chang Bernard S.,Bodell Adria L.,Pai G. Shashidhar,Job Leela,Lagae Lieven G.,Al-Gazali Lihadh I.,Eyaid Wafaa M.,Enns Greg,Dobyns William B.,Walsh Christopher A.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference20 articles.

1. The spectrum of lissencephaly: Report of ten patients analyzed by magnetic resonance imaging

2. Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

3. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease

4. 1998. GENEHUNTER. Version version 2.0 beta. Boston: Whitehead Institute.

5. Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia

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