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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Eur J Hum Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2015
Soggetti:
Article
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi