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[Clinical features and genetic analysis of two Chinese pedigrees affected with Lymphedema-Distichiasis syndrome].

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

Li Jing, Yuan Limin, Zhai Shanshan, Li Naiqi, Wang Handuo, Han Xiao, Zhao Lanlan, Li Juan, Cui Shihong, Liu Ling

Abstract excerpt

OBJECTIVE: To explore the prenatal and postnatal features and genetic characteristics of patients with Lymphedema-Distichiasis syndrome (LDS) due to variants of FOXC2 gene. METHODS: A retrospective analysis was carried out on the phenotypic information, fetal ultrasound image, and genetic testing of two Chinese pedigrees diagnosed at the Third Affiliated Hospital of Zhengzhou University. A literature review was...

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PMID: 39653349
DOI: 10.3760/cma.j.cn511374-20240807-00426

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