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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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) |
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Format: | Book |
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BMC,
2012-08-01T00:00:00Z.
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