CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

Mutations of the calcium/calmodulin-dependent serine protein kinase (CASK) gene have recently been associated with X-linked mental retardation (XLMR) with microcephaly, optic atrophy and brainstem and cerebellar hypoplasia, as well as with an X-linked syndrome having some FG-like features. Our group...

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主要な著者: Hackett, Anna, Tarpey, Patrick S, Licata, Andrea, Cox, James, Whibley, Annabel, Boyle, Jackie, Rogers, Carolyn, Grigg, John, Partington, Michael, Stevenson, Roger E, Tolmie, John, Yates, John RW, Turner, Gillian, Wilson, Meredith, Futreal, Andrew P, Corbett, Mark, Shaw, Marie, Gecz, Jozef, Raymond, F Lucy, Stratton, Michael R, Schwartz, Charles E, Abidi, Fatima E
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2010
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Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987321/
https://ncbi.nlm.nih.gov/pubmed/20029458
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.220
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