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[Variant analysis of CCBE1 gene in a case of Hennekam lymphangiectasia-lymphedema syndrome type 1].

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

Ren Ying, Liu Yi, Lyu Yuqiang, Gao Min, Wang Dong, Wan Ya, Ma Jian, Shen Nan, Gai Zhongtao

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a child with lymphangiectasia and lymphedema. METHODS: DNA sample of the patient was extracted and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing. RESULTS: The patient was found to carry compound heterozygote variants (c.521G>A and c.472C>T) of the CCBE1 gene, which were respectively inherited from his parents. CONCLUSION:...

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Identifiers

PMID: 32472549
DOI: 10.3760/cma.j.issn.1003-9406.2020.06.018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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