Novel USP9X variants in two patients with X-linked intellectual disability

USP9X variants have been reported in patients with X-linked intellectual disability. Here, we report two female patients with intellectual disability and pigment abnormalities along Blaschko lines. Targeted resequencing identified two novel heterozygous variants, c.4068_4072del (p. (Leu1357Tyrfs*12)...

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Bibliografiske detaljer
Udgivet i:Hum Genome Var
Main Authors: Tsurusaki, Yoshinori, Kuroda, Yukiko, Yamanouchi, Yasuko, Kondo, Eisuke, Ouchi, Kazunobu, Kimura, Yuichi, Enomoto, Yumi, Aida, Noriko, Masuno, Mitsuo, Kurosawa, Kenji
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2019
Fag:
Data Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6804943/
https://ncbi.nlm.nih.gov/pubmed/31666975
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0081-7
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