Further evidence for POMK as candidate gene for WWS with meningoencephalocele | Orphanet Journal of Rare Diseases | Full Text

Further evidence for POMK as candidate gene for WWS with meningoencephalocele | Orphanet Journal of Rare Diseases | Full Text

Further evidence for POMK as candidate gene for WWS with meningoencephalocele

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...

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 and Alma Kuechler

Citation:Orphanet Journal of Rare Diseases 2020 15:242

Content type:Research

 

Published on: 9 September 2020

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