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Article

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.

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

Arora Veronica, Khan Suliman, El-Hattab Ayman W, Dua Puri Ratna, Rocha Maria Eugenia, Merdzanic Rijad, Paknia Omid, Beetz Christian, Rolfs Arndt, Bertoli-Avella Aida M, Bauer Peter, Verma Ishwar C

Abstract excerpt

BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are one of the most common malformations identified in the fetal stage. Bilateral renal agenesis (BRA) represents the most severe and fatal form of CAKUT. Only three genes have been confirmed to have a causal role in humans (ITGA8, GREB1L, and FGF20). METHODS: Genome sequencing within a diagnostic setting and combined data repository...

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Identifiers

PMID: 33020172
DOI: 10.1681/ASN.2020040478
PMCID: PMC7894660

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