Survival of a male patient harboring CASK Arg27Ter mutation to adolescence

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 in males...

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Detalles Bibliográficos
Autores principales: Mukherjee, Konark, Patel, Paras A., Rajan, Deepa S., LaConte, Leslie E. W., Srivastava, Sarika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549553/
https://www.ncbi.nlm.nih.gov/pubmed/32696595
http://dx.doi.org/10.1002/mgg3.1426

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549553/
https://www.ncbi.nlm.nih.gov/pubmed/32696595
http://dx.doi.org/10.1002/mgg3.1426

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