A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature

Intellectual disability (ID) is a clinically and genetically heterogeneous developmental brain disorder. The present study describes two male siblings, aged 7 and 1 yr old, with severe ID, spastic quadriplegia, nystagmus, and brain atrophy with acquired microcephaly. We used the exome sequencing to...

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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Iida, Aritoshi, Takano, Kyoko, Takeshita, Eri, Abe-Hatano, Chihiro, Hirabayashi, Shinichi, Inaba, Yuji, Kosugi, Shunichi, Kamatani, Yoichiro, Momozawa, Yukihide, Kubo, Michiaki, Nakagawa, Eiji, Inoue, Ken, Goto, Yu-ichi
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2019
Assuntos:
Rapid Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6913141/
https://ncbi.nlm.nih.gov/pubmed/31444167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003988
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