Article
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
Human mutation - 1 Aug 2016
Fieremans Nathalie, Van Esch Hilde, Holvoet Maureen, Van Goethem Gert, Devriendt Koenraad, Rosello Monica, Mayo Sonia, Martinez Francisco, Jhangiani Shalini, Muzny Donna M, Gibbs Richard A, Lupski James R, Vermeesch Joris R, Marynen Peter, Froyen Guy
Abstract excerpt
Intellectual disability (ID) is a heterogeneous disorder with an unknown molecular etiology in many cases. Previously, X-linked ID (XLID) studies focused on males because of the hemizygous state of their X chromosome. Carrier females are generally unaffected because of the presence of a second normal allele, or inactivation of the mutant X chromosome in most of their cells (skewing). However, in female ID...
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