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Article

[Tatton-Brown-Rahman syndrome associated with the DNMT3A gene: a case report and literature review].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Oct 2020

Chen Min, Li Si-Tao, Cai Yao, Xiao Xin, Shi Cong-Cong, Hao Hu

Abstract excerpt

This article reports the clinical and genetic features of a case of Tatton-Brown-Rahman syndrome (TBRS) caused by DNMT3A gene mutation. A girl, aged 8 months and 14 days, had the clinical manifestations of psychomotor retardation, hypotonia, ventricular enlargement, and tonsillar hernia malformation. Gene analysis identified a novel heterozygous mutation, c.134C>T(p.A45V), in the DNMT3A gene, and the wild type...

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Identifiers

PMID: 33059810
PMCID: PMC7568996

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