Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

The CASK gene (Xp11.4) is highly expressed in the mammalian nervous system and plays several roles in neural development and synaptic function. Loss-of-function mutations of CASK are associated with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH), especially...

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Detalles Bibliográficos
Autores principales: Hayashi, Shin, Uehara, Daniela Tiaki, Tanimoto, Kousuke, Mizuno, Seiji, Chinen, Yasutsugu, Fukumura, Shinobu, Takanashi, Jun-ichi, Osaka, Hitoshi, Okamoto, Nobuhiko, Inazawa, Johji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5546575/
https://www.ncbi.nlm.nih.gov/pubmed/28783747
http://dx.doi.org/10.1371/journal.pone.0181791

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