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Article

[Genetic analysis and clinical phenotype of a family with lymphedema-distichiasis syndrome].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 25 Oct 2020

Hu Gang, Liu Bei, Chen Min, Qian Yeqing, Dong Minyue

Abstract excerpt

OBJECTIVE: To identify the genetic causes of a family with lymphedema-distichiasis syndrome (LDS). METHODS: The whole exome sequencing was performed in a aborted fetus as the proband, and a candidate gene was identified. Peripheral blood of 8 family members were collected. Genotypic-phenotypic analysis were carried out through PCR amplification and Sanger sequencing. RESULTS: The proband, and the mother,...

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Identifiers

PMID: 33210483
DOI: 10.3785/j.issn.1008-9292.2020.10.05
PMCID: PMC8800725

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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