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[Analysis of NSD1 gene variant in a child with autism spectrum disorder in conjunct with congenital heart disease].

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

Yin Heng, Qiu Zhongqing, Li Tongtong, Chen Yajun, Xia Jinrong, Huang Gelin, Xu Wenming, Xie Jiang

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and genetic basis of a child with autism spectrum disorder (ASD) in conjunct with congenital heart disease (CHD). METHODS: A child who was hospitalized at the Third People's Hospital of Chengdu on April 13, 2021 was selected as the study subject. Clinical data of the child were collected. Peripheral blood samples of the child and his parents were collected and...

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PMID: 37212006
DOI: 10.3760/cma.j.cn5113874-20220901-00597

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