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[Clinical characteristics and genetic analysis of a child with Coffin-Siris syndrome type 8 due to an intronic variant of SMARCC2 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2026

Zhong Shiling, Li Yunyan, Chen Yuanling, Li Haibo, Chen Changshui, Wu Ling, Yan Lulu

Abstract excerpt

OBJECTIVE: To explore the clinical phenotype and genetic characteristics of a child with Coffin-Siris syndrome type 8 (CSS8) due to an intronic variant of the SMARCC2 gene. METHODS: A child who had attended the Women and Children's Hospital of Ningbo University on 5 March, 2025 was selected as study subject. Clinical data of the child was collected. Peripheral blood samples were collected from the child and her...

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Identifiers

PMID: 42091196
DOI: 10.3760/cma.j.cn511374-20250812-00483

Genes

SMARCC2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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