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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Vydáno v:Hum Mutat
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2016
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Article
On-line přístup: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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