Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications

Point mutations and genomic deletions of the CDKL5 (STK9) gene on chromosome Xp22 have been reported in patients with severe neurodevelopmental abnormalities, including Rett-like disorders. To date, only larger-sized (8–21 Mb) duplications harboring CDKL5 have been described. We report seven females...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Szafranski, Przemyslaw, Golla, Sailaja, Jin, Weihong, Fang, Ping, Hixson, Patricia, Matalon, Reuben, Kinney, Daniel, Bock, Hans-georg, Craigen, William, Smith, Janice L, Bi, Weimin, Patel, Ankita, Wai Cheung, Sau, Bacino, Carlos A, Stankiewicz, Paweł
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4463505/
https://ncbi.nlm.nih.gov/pubmed/25315662
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.217
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