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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Detalhes bibliográficos
Publicado no:Intractable Rare Dis Res
Main Authors: Seto, Toshiyuki, Hamazaki, Takashi, Nishigaki, Satsuki, Kudo, Satoshi, Shintaku, Haruo, Ondo, Yumiko, Shimojima, Keiko, Yamamoto, Toshiyuki
Formato: Artigo
Idioma:Inglês
Publicado em: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2017
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Original Article
Acesso em linha: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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