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

• Main Authors: Hanchard Neil A (Author), Carvalho Claudia MB (Author), Bader Patricia (Author), Thome Aaron (Author), Omo-Griffith Lisa (Author), del Gaudio Daniela (Author), Pehlivan Davut (Author), Fang Ping (Author), Schaaf Christian P (Author), Ramocki Melissa B (Author), Lupski James R (Author), Cheung Sau Wai (Author)
• Format: Book
• Published: BMC, 2012-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<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...