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Article

A Biallelic Frameshift Mutation in Nephronectin Causes Bilateral Renal Agenesis in Humans.

Journal of the American Society of Nephrology : JASN - 1 Aug 2021

Dai Lei, Li Jingzhi, Xie Liangqun, Wang Weinan, Lu Yang, Xie Mingkun, Huang Jingrui, Shen Kuifang, Yang Hui, Pei Chenlin, Zhao Yanhua, Zhang Weishe

Abstract excerpt

BACKGROUND: Bilateral renal agenesis (BRA) is a lethal con genital anomaly caused by the failure of normal development of both kidneys early in embryonic development. Oligohydramnios on fetal ultrasonography reveals BRA. Although the exact causes are not clear, BRA is associated with mutations in many renal development genes. However, molecular diagnostics do not pick up many clinical patients. Nephronectin...

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Identifiers

PMID: 34049960
DOI: 10.1681/ASN.2020121762
PMCID: PMC8455264

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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