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Article

The genetic spectrum of polycystic kidney disease in children.

Revista da Associacao Medica Brasileira (1992) - 1 Jan 2023

Kocaaga Ayca, Atikel Yesim Özdemir, Sak Mehtap, Karakaya Taner

Abstract excerpt

OBJECTIVE: Autosomal dominant polycystic kidney disease is an inherited kidney disorder with mutations in polycystin-1 or polycystin-2. Autosomal recessive polycystic kidney disease is a severe form of polycystic kidney disease that is characterized by enlarged kidneys and congenital hepatic fibrosis. Mutations at PKHD1 are responsible for all typical forms of autosomal recessive polycystic kidney disease....

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Identifiers

PMID: 37909612
DOI: 10.1590/1806-9282.20230334
PMCID: PMC10610762

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