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Article

Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta.

European journal of medical genetics - 1 Jun 2024

Ciantar Natalie, Zahra Graziella, Delicata Julian, Sammut Fiona, Calleja-Agius Jean, Farrugia Emanuel, Said Edith

Abstract excerpt

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the development of multiple renal cysts causing kidney enlargement and end-stage renal disease (ESRD) in half the patients by 60 years of age. The aim of the study was to determine the genetic aetiology in Maltese patients clinically diagnosed with ADPKD and correlate the clinical features. METHODS: A total of 60 patients over 18...

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PMID: 38537868
DOI: 10.1016/j.ejmg.2024.104934

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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