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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Vydáno v:Eur J Hum Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2015
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Article
On-line přístup: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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