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Article

The genetic landscape of polycystic kidney disease in Ireland.

European journal of human genetics : EJHG - 1 May 2021

Benson Katherine A, Murray Susan L, Senum Sarah R, Elhassan Elhussein, Conlon Eoin T, Kennedy Claire, Conlon Shane, Gilbert Edmund, Connaughton Dervla, O'Hara Paul, Khamis Sarah, Cormican Sarah, Brody Lawrence C, Molloy Anne M, Lynch Sally Ann, Casserly Liam, Griffin Matthew D, Carton Robert, Yachnin Kevin, Harris Peter C, Cavalleri Gianpiero L, Conlon Peter

Abstract excerpt

Polycystic kidney diseases (PKDs) comprise the most common Mendelian forms of renal disease. It is characterised by the development of fluid-filled renal cysts, causing progressive loss of kidney function, culminating in the need for renal replacement therapy or kidney transplant. Ireland represents a valuable region for the genetic study of PKD, as family sizes are traditionally large and the population...

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Identifiers

PMID: 33454723
DOI: 10.1038/s41431-020-00806-5
PMCID: PMC8110806

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