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Article

Autosomal dominant polycystic kidney disease: new information for genetic counselling.

American journal of medical genetics - 1 Jun 1992

Bear J C, Parfrey P S, Morgan J M, Martin C J, Cramer B C

Abstract excerpt

We evaluated the accuracy of ultrasonographic diagnosis of autosomal dominant polycystic kidney disease (ADPKD) and factors influencing its prognosis in members of 17 Newfoundland families originally described in 1984. In 10 families showing genetic linkage between ADPKD and markers for the PKD1 locus, rates of false negative ultrasonographic diagnosis are estimated as 36% below the age of 10 years and 8% or less...

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Identifiers

PMID: 1605247
DOI: 10.1002/ajmg.1320430309

Genes

PKD1

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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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