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A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly
The calcium/calmodulin-dependent serine protein kinase gene (CASK) mutations are associated with various neurological disorders; a syndrome of intellectual disability (ID) and microcephaly with pontine and cerebellar hypoplasia (MICPCH), FG syndrome, X-linked ID with/without nystagmus, epileptic enc...
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| Опубликовано в: : | Intractable Rare Dis Res |
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| Главные авторы: | , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2017
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5608927/ https://ncbi.nlm.nih.gov/pubmed/28944139 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2017.01031 |
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