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[Genetic analysis of a fetus with renal dysplasia/hypoplasia due to a variant of GREB1L gene and literature review].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2026

Ma Danning, Ma Shunfei, Liu Xiangyu, Shang Xuan, Yang Fang, Xiong Fu, Xiao Yuanling

Abstract excerpt

OBJECTIVE: To carry out clinical and genetic analysis for a fetus with absent kidneys and bladder. METHODS: Clinical data of the fetus were collected. Whole exome sequencing (WES) and Sanger sequencing were carried out on fetal tissue and peripheral blood samples from its family members. A RDDC online tool was used to predict the impact of the variant on the GREB1L gene splicing, which was further validated by in...

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Identifiers

PMID: 42091195
DOI: 10.3760/cma.j.cn511374-20260116-00027

Genes

GREB1L
KY

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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