<i>POMT2</i> mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

2005416 citationsJournal Articlebronze Open Access

Authors

J. van Reeuwijk · Radboud University Medical Center

M Janssen · Radboud University Nijmegen

C van den Elzen · Radboud University Nijmegen

D Beltran-Valero de Bernabé · Radboud University Medical Center

P Sabatelli · Istituto Ortopedico Rizzoli

L Merlini · Istituto Ortopedico Rizzoli

M Boon · University Medical Center Groningen

H Scheffer

Abstract

A fourth causative gene for WWS was uncovered. These genes account for approximately one third of the WWS cases. Several more genes are anticipated, which are likely to play a role in glycosylation of alpha-DG.

Topics & Keywords

RNA Research and Splicing Cancer-related molecular mechanisms research Signaling Pathways in Disease

Publication Details

Published in: Journal of Medical Genetics

Volume 42, Issue 12, pp. 907-912

DOI: 10.1136/jmg.2005.031963

Field-Weighted Citation Impact: 13.04

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<i>POMT2</i> mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

Authors

Abstract

Topics & Keywords

Publication Details