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[Frontometaphyseal dysplasia 1 caused by variant of FLNA gene in a case].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2021

Ye Qingyan, Zhao Jun, Chang Guoying, Wang Yirou, Ding Yu, Li Juan, Li Qun, Chen Yao, Wang Jian, Wang Xiumin

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic characteristics of a child with frontometaphyseal dysplasia 1 (FMD1) due to variant of FLNA gene. METHODS: Clinical phenotype of the patient was analyzed. Whole exome sequencing (WES) was carried out to detect pathogenic genetic variants. Sanger sequencing was used to verify the result in his parents. RESULTS: The 2-year-and-9-month-old boy presented with facial...

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PMID: 33834464
DOI: 10.3760/cma.j.cn511374-20200523-00374

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Source receipt: pubmed, retrieved 7 Sept 2026.

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