Associated Papers
Further evidence for POMK as candidate gene for WWS with meningoencephalocele.
Paul L et al.
Orphanet Journal of Rare Diseases, 2020
Structure of protein O-mannose kinase reveals a unique active site architecture.
Zhu Q et al.
Elife, 2016
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.
Di Costanzo S et al.
Human Molecular Genetics, 2014
POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.
von Renesse A et al.
Journal of Medical Genetics, 2014
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