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[Genetic analysis of two children with Coffin-Siris syndrome due to variants of ARID1B gene].

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

Li Zhi, Liu Fang, Wan Ruihua, Wu Yuanyuan, Liu Jun

Abstract excerpt

OBJECTIVE: To explore the genetic basis of two children with unexplained psychomotor developmental delay and facial dysmorphisms suggestive of Coffin-Siris syndrome (CSS). METHODS: A boy and a girl suspected for CSS at the 980th Hospital of the People's Liberation Army Joint Service Support Force respectively in July 2019 and January 2021, and seven members from their families, were selected as the study...

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Identifiers

PMID: 38171562
DOI: 10.3760/cma.j.cn511374-20221026-00721

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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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