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

• Autori principali: Hanchard Neil A (Autore), Carvalho Claudia MB (Autore), Bader Patricia (Autore), Thome Aaron (Autore), Omo-Griffith Lisa (Autore), del Gaudio Daniela (Autore), Pehlivan Davut (Autore), Fang Ping (Autore), Schaaf Christian P (Autore), Ramocki Melissa B (Autore), Lupski James R (Autore), Cheung Sau Wai (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2012-08-01T00:00:00Z.
• Soggetti: article
• Accesso online: 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...