Article
[Autism spectrum disorder/development delay in siblings with SCN2A mutations caused by germline mosaicism].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2021
Zhang Pingping, Gao Zhijie, Jia Jia, Chen Qian
Abstract excerpt
OBJECTIVE: To report on a family which has two siblings with SCN2A mutation caused by germline mosaicism suffering from autism spectrum disorder/development delay (ASD/DD). METHODS: Clinical data was collected for the proband and his parents. Next generation sequencing (NGS) was carried out on the proband and his parents. Suspected mutations were verified by Sanger sequencing of the proband, his parents and...
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