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Article

Molecular analysis of a consanguineous Iranian polycystic kidney disease family identifies a PKD2 mutation that aids diagnostics.

BMC nephrology - 8 Sept 2013

Vazifehmand Reza, Rossetti Sandro, Saber Sassan, Khorshid Hamid Reza Khorram, Harris Peter C

Abstract excerpt

BACKGROUND: Polycystic kidney diseases (PKD) are a group of monogenic disorders that are inherited dominantly (autosomal dominant PKD; ADPKD) or recessively, including, autosomal recessive PKD (ARPKD). A number of recessive, syndromic disorders also involve PKD but have a range of pleiotropic phenotypes beyond the kidney, and are enriched in consanguineous families. CASE PRESENTATION: We describe here a...

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Source

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Identifiers

PMID: 24011172
DOI: 10.1186/1471-2369-14-190
PMCID: PMC3846117

Genes

PKD2
PKD1

Provenance

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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