Molecular heterogeneity in fetal forms of type II lissencephaly-Reference-Cited by-同舟云学术

Molecular heterogeneity in fetal forms of type II lissencephaly

Published:2007 Issue:10 Volume:28 Page:1020-1027
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Bouchet C.,Gonzales M.,Vuillaumier-Barrot S.,Devisme L.,Lebizec C.,Alanio E.,Bazin A.,Bessières-Grattagliano B.,Bigi N.,Blanchet P.,Bonneau D.,Bonnières M.,Carles D.,Delahaye S.,Fallet-Bianco C.,Figarella-Branger D.,Gaillard D.,Gasser B.,Guimiot F.,Joubert M.,Laurent N.,Liprandi A.,Loget P.,Marcorelles P.,Martinovic J.,Menez F.,Patrier S.,Pelluard-Nehmé F.,Perez M.J.,Rouleau-Dubois C.,Triau S.,Laquerrière A.,Encha-Razavi F.,Seta N.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference39 articles.

1. Mutations of the POMT1 gene found in patients with Walker–Warburg syndrome lead to a defect of protein O-mannosylation

2. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker–Warburg syndrome (WWS) caused by a mutation in the POMT1 gene

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

4. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome

5. Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families

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