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[Analysis of a child with X-linked intellectual disability due to a maternal de novo splicing variant of the PAK3 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2023

Wang Chen, Qiu Xueping, Hu Hui, Jin Bingyu, Cheng Yating, Zhao Yue, Zhou Chun, Ma Ling, Zhang Yuanzhen, Zheng Fang

Abstract excerpt

OBJECTIVE: To explore the genetic etiology for a child with profound intellectual disabilities and obvious behavioral abnormalities. METHODS: A male child who had presented at the Zhongnan Hospital of Wuhan University on December 2, 2020 was selected as the study subject. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing (WES). Candidate variant was...

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PMID: 37368392
DOI: 10.3760/cma.j.cn5113874-20220513-00326

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