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[Genetic analysis of a child with Pitt-Hopkins syndrome due to a novel variant of TCF4 gene derived from low percentage maternal mosaicism].

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

Tang Jiao, Ling Junhe, Zhang Chuan, Hao Shengju, Ma Jun, Li Jiaxuan, Zhao Lei, Wang Yupei, Hui Ling

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a child with Pitt-Hopkins syndrome. METHODS: A child who had presented at the Medical Genetics Center of Gansu Provincial Maternal and Child Health Care Hospital on February 24, 2021 and his parents were selected as the study subjects. Clinical data of the child was collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents and...

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PMID: 37212002
DOI: 10.3760/cma.j.cn511374-20220826-00581

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