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

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

<p>Abstract</p> <p>Background</p> <p>Duplications of the X-linked <it>MECP2</it> gene are associated with moderate to severe intellectual disability, epilepsy, and neuropsychiatric illness in males, while triplications are associated with a more severe pheno...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2012-08-01
Series:BMC Medical Genetics
Subjects:
Rearrangement
CNV
3′ UTR
X-linked intellectual disability
Epilepsy
Online Access:http://www.biomedcentral.com/1471-2350/13/71

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http://www.biomedcentral.com/1471-2350/13/71

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