Further evidence for POMK as candidate gene for WWS with meningoencephalocele

Further evidence for POMK as candidate gene for WWS with meningoencephalocele

Abstract Background Walker-Warburg syndrome (WWS) is a rare form of alpha-dystroglycanopathy characterized by muscular dystrophy and severe malformations of the CNS and eyes. Bi-allelic pathogenic variants in POMK are the cause of a broad spectrum of alpha-dystroglycanopathies. POMK encodes protein-...

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Bibliographic Details
Main Authors: Luisa Paul, Katrin Rupprich, Adela Della Marina, Anja Stein, Magdeldin Elgizouli, Frank J. Kaiser, Bernd Schweiger, Angela Köninger, Antonella Iannaccone, Ute Hehr, Heike Kölbel, Andreas Roos, Ulrike Schara-Schmidt, Alma Kuechler
Format: Article
Language:English
Published: BMC 2020-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
POMK
Protein O-mannose kinase
Walker-Warburg syndrome
Alpha-dystroglycanopathy
Congenital muscular dystrophy
Meningoencephalocele
Online Access:http://link.springer.com/article/10.1186/s13023-020-01454-0

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http://link.springer.com/article/10.1186/s13023-020-01454-0

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