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Article

[Analysis of HNF1B gene variant in a fetus featuring infantile polycystic kidney disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2022

Zhang Yan, Zeng Lina, Lin Li, Dong Xian

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a fetus featuring infantile polycystic kidney disease (IPKD). METHODS: Following elective abortion, fetal tissue and peripheral blood samples of its parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out to detect potential variants correlated with the phenotype. RESULTS: The fetus was found to harbor a heterozygous c.1370C>T...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 35076921
DOI: 10.3760/cma.j.cn511374-20210109-00024

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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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