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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Detalles Bibliográficos
Autores principales: Tsurusaki, Yoshinori, Kuroda, Yukiko, Yamanouchi, Yasuko, Kondo, Eisuke, Ouchi, Kazunobu, Kimura, Yuichi, Enomoto, Yumi, Aida, Noriko, Masuno, Mitsuo, Kurosawa, Kenji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804943/
https://www.ncbi.nlm.nih.gov/pubmed/31666975
http://dx.doi.org/10.1038/s41439-019-0081-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804943/
https://www.ncbi.nlm.nih.gov/pubmed/31666975
http://dx.doi.org/10.1038/s41439-019-0081-7

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