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[Genetic variant analysis of a pedigree affected with lymphedema-distichiasis syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2020

Liu Yuefang, Ding Jing, Peng Yuan, Liang Zhe, Yan Nannan, Jin Xin, Fang Fang, Weng Xiaojing, Pan Qiong

Abstract excerpt

OBJECTIVE: To analyze FOXC2 gene variant in a family affected with lymphodema-distichiasis syndrome (LDS). METHODS: Peripheral blood samples were collected for the extraction of DNA and protein. Whole-exome sequencing was carried out to detect variants in the proband. Suspected variant was validated by Sanger sequencing. Western blotting was used to detect changes in protein expression. RESULTS: The proband and...

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Identifiers

PMID: 32219830
DOI: 10.3760/cma.j.issn.1003-9406.2020.04.017

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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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