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[Diagnosis of Bainbridge-Ropers syndrome due to de novo ASXL3 variant by high throughput sequencing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2020

Lyu Yuqiang, Zhao Dongmei, Zhang Kaihui, Gao Min, Ma Jian, Wang Dong, Gai Zhongtao, Liu Yi

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic features of a patient with mental retardation. METHODS: G-Banding chromosomal karyotyping and high-throughput sequencing was carried out for the child. Suspected variant was validated in his family by Sanger sequencing and bioinformatic analysis. RESULTS: The patient was found to carry a de novo heterozygous c.4090G>T (p.Gly1364X) variant of the ASXL3 gene, which was...

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PMID: 32219835
DOI: 10.3760/cma.j.issn.1003-9406.2020.04.022

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