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Article

Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.

The Journal of molecular diagnostics : JMD - 1 Jan 2010

Fiskerstrand Torunn, Houge Gunnar, Sund Staale, Scheie David, Leh Sabine, Boman Helge, Knappskog Per M

Abstract excerpt

We have investigated a family where two siblings had a developmental disorder associated with polycystic dysplastic kidney disease that was incompatible with postnatal survival. Additional features observed were ductal plate malformation in the liver, dysplasia of the pancreas, and (in one indivi...

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Source

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Identifiers

PMID: 20007846
DOI: 10.2353/jmoldx.2010.090033
PMCID: PMC2797727

Genes

NPHP3
IQCB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20007846-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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