Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations

BACKGROUND: Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the disease causing MECP2 mutations are eight recurrent C to T transitions, which almost exclusively arise on the paternally derived X...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Ravn, Kirstine, Roende, Gitte, Duno, Morten, Fuglsang, Kathrine, Eiklid, Kristin L, Tümer, Zeynep, Nielsen, Jytte B, Skjeldal, Ola H
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2011
Pynciau:
Research
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3173288/
https://ncbi.nlm.nih.gov/pubmed/21878110
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-6-58
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