Cargando…
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...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
|
| Materias: | |
| 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 |