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Genetic diagnosis and prenatal diagnosis of patients with cystic kidney disease in Southwest China.

BMC nephrology - 17 Jul 2025

Zhou Cong, Xiao Yuanyuan, Xie Hanbing, Wei Xing, Wang Jing

Abstract excerpt

BACKGROUND: Cystic kidney disease is a heterogeneous chronic kidney disease. It is often difficult to make a definitive diagnosis based on clinical and ultrasound features alone. METHODS: A total of 40 families with cystic kidney disease from Southwest China to meet their genetic counseling and prenatal diagnosis needs. To detect renal disease genes, NGS was performed on probands with cystic kidney disease, and...

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Identifiers

PMID: 40676543
DOI: 10.1186/s12882-025-04346-2
PMCID: PMC12273355

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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