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Article

Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome.

BMC medical genomics - 18 Jan 2024

Yan Xu, Hu Yueyue, Zhang Xin, Gao Xia, Zhao Yang, Peng Haiying, Ouyang Liu, Zhang Changjun

Abstract excerpt

BACKGROUND: Antenatal Bartter syndrome is a life-threatening disease caused by a mutation in the MAGED2 gene located on chromosome Xp11. It is characterized by severe polyhydramnios and extreme prematurity. While most reported mutations are located in the exon region, variations in the intron region are rarely reported. METHODS: In our study, we employed whole exome sequencing and Sanger sequencing to genotype...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38238844
DOI: 10.1186/s12920-024-01797-8
PMCID: PMC10795325

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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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