Identification of intellectual disability genes in female patients with a skewed X inactivation pattern

Intellectual disability (ID) is a heterogeneous disorder with an unknown molecular etiology in many cases. Previously, X-linked ID (XLID) studies focused on males due to the hemizygous state of their X chromosome. Carrier females are generally unaffected due to the presence of a second normal allele...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Fieremans, Nathalie, Van Esch, Hilde, Holvoet, Maureen, Van Goethem, Gert, Devriendt, Koen, Rosello, Monica, Mayo, Sonia, Martinez, Francisco, Jhangiani, Shalini, Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Vermeesch, Joris R., Marynen, Peter, Froyen, Guy
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4940233/
https://ncbi.nlm.nih.gov/pubmed/27159028
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23012
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