A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

BACKGROUND: Duplications of the X-linked MECP2 gene are associated with moderate to severe intellectual disability, epilepsy, and neuropsychiatric illness in males, while triplications are associated with a more severe phenotype. Most carrier females show complete skewing of X-inactivation in periph...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Hanchard, Neil A, Carvalho, Claudia MB, Bader, Patricia, Thome, Aaron, Omo-Griffith, Lisa, del Gaudio, Daniela, Pehlivan, Davut, Fang, Ping, Schaaf, Christian P, Ramocki, Melissa B, Lupski, James R, Cheung, Sau Wai
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2012
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3575261/
https://ncbi.nlm.nih.gov/pubmed/22883432
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-13-71
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