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[Analysis of ANKRD11 gene variant in a family affected with KBG syndrome].

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

Wang Dayan, Lai Panjian, Li Xiaobing

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a pedigree affected with KBG syndrome. METHODS: Clinical data of three patients from the pedigree (the proband, his mother and sister) was collected. Genomic DNA was extracted from peripheral blood samples and subjected to whole exome sequencing (WES). Suspected variant was verified by Sanger sequencing. RESULTS: The proband was found to harbor a heterozygous...

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Identifiers

PMID: 32820523
DOI: 10.3760/cma.j.cn511374-20190907-00462

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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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