Further evidence for POMK as candidate gene for WWS with meningoencephalocele
Further evidence for POMK as candidate gene for WWS with meningoencephalocele
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Publisher
England: BioMed Central
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Language
English
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Publisher
England: BioMed Central
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Contents
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-O-mannose kinase, which is required for proper glycosylation and funct...
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Full title
Further evidence for POMK as candidate gene for WWS with meningoencephalocele
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TN_cdi_doaj_primary_oai_doaj_org_article_5afe8591e55b4aadbf8bc23deba02c66
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5afe8591e55b4aadbf8bc23deba02c66
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-020-01454-0
