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[Genetic analysis of a family with epilepsy accompanied by developmental delay and brain deformity due to a de novo variant of TUBB2A gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2024

Zhao Juan, Xu Na, Li Yufen, Yang Li, Qiu Shiyan, Zhu Liping, Sun Xuemei

Abstract excerpt

OBJECTIVE: To explore the clinical manifestations and pathogenic variant in a family with epilepsy, developmental delay and brain deformity. METHODS: Clinical data of the child and his family members who had visited the Department of Pediatrics, Linyi People's Hospital on July 2, 2022 were collected. The child, his sister and parents were subjected to high-throughput sequencing, and the result was verified by...

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Identifiers

PMID: 38311557
DOI: 10.3760/cma.j.cn511374-20221202-00828

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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