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[Clinical characteristics and genetic analysis of two children with Tuberous sclerosis complex].

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

Li Linfei, Luo Shuying, Zhang Yaodong, Shang Qing, Zhang Wancun, Zhang Xiaoman, Liu Lei, Mei Shiyue

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and genetic variants in two children with Tuberous sclerosis complex (TSC). METHODS: Two children who had presented at the Children's Hospital Affiliated to Zhengzhou University respectively in June 2020 and July 2021 were selected as the study subjects. Clinical data of the children were collected, and potential pathogenic variants were screened by whole exome...

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Identifiers

PMID: 37994135
DOI: 10.3760/cma.j.cn511374-20220922-00639

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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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