Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). A large degree of phenotypic variation has been observed in patients with RTT, both those with and without MECP2 mutations. We describe a...

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Hlavní autoři: Weaving, Linda S., Christodoulou, John, Williamson, Sarah L., Friend, Kathie L., McKenzie, Olivia L. D., Archer, Hayley, Evans, Julie, Clarke, Angus, Pelka, Gregory J., Tam, Patrick P. L., Watson, Catherine, Lahooti, Hooshang, Ellaway, Carolyn J., Bennetts, Bruce, Leonard, Helen, Gécz, Jozef
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2004
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182143/
https://ncbi.nlm.nih.gov/pubmed/15492925
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