POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

Background: Walker-Warburg syndrome (WWS) is an autosomal recessive condition characterised by congenital muscular dystrophy, structural brain defects, and eye malformations. Typical brain abnormalities are hydrocephalus, lissencephaly, agenesis of the corpus callosum, fusion of the hemispheres, cer...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: van Reeuwijk, J, Janssen, M, van den Elzen, C, d Beltran-Valero, Sabatelli, P, Merlini, L, Boon, M, Scheffer, H, Brockington, M, Muntoni, F, Huynen, M, Verrips, A, Walsh, C, Barth, P, Brunner, H, van Bokhoven, H
Format: Artigo
Langue:Inglês
Publié: BMJ Group 2005
Sujets:
Original Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735967/
https://ncbi.nlm.nih.gov/pubmed/15894594
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.031963
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires