Survival of a male patient harboring CASK Arg27Ter mutation to adolescence

Survival of a male patient harboring CASK Arg27Ter mutation to adolescence

Abstract Background CASK is an X‐linked gene in mammals and its deletion in males is incompatible with life. CASK heterozygous mutations in female patients associate with intellectual disability, microcephaly, pontocerebellar hypoplasia, and optic nerve hypoplasia, whereas CASK hemizygous mutations...

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Bibliographic Details
Main Authors: Konark Mukherjee, Paras A. Patel, Deepa S. Rajan, Leslie E. W. LaConte, Sarika Srivastava
Format: Article
Language:English
Published: Wiley 2020-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CASK
cerebellar hypoplasia
electroencephalogram
epileptic encephalopathy
microcephaly
Online Access:https://doi.org/10.1002/mgg3.1426

Internet

https://doi.org/10.1002/mgg3.1426

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