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Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction
Deletion and truncation mutations in the X-linked gene CASK are associated with severe intellectual disability (ID), microcephaly and pontine and cerebellar hypoplasia in girls (MICPCH). The molecular origin of CASK-linked MICPCH is presumed to be due to disruption of the CASK-Tbr-1 interaction. Thi...
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| Опубликовано в: : | Hum Genet |
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| Главные авторы: | , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2018
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6391276/ https://ncbi.nlm.nih.gov/pubmed/29426960 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-018-1874-3 |
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