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[Clinical features and genetic etiology analysis in a patient with Fliedner-Zweier syndrome caused by a de novo SCAF4 variant].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2025

Yan Lulu, Chen Changshui, Zhang Yuxin, Cao Juan, Han Chunxiao, Li Haibo

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a patient with Fliedner-Zweier syndrome (FZS). METHODS: A pregnant woman who was diagnosed with FZS at the Affiliated Women and Children's Hospital of Ningbo University in November 2023 for "intellectual disability, epilepsy, delayed language development and facial abnormalities" was selected as the study subject. Peripheral blood samples...

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Identifiers

PMID: 41811042
DOI: 10.3760/cma.j.cn511374-20250415-00227

Genes

SCAF4

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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