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Article

Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation.

American journal of medical genetics. Part A - 1 Jul 2013

Copelovitch Lawrence, O'Brien Maureen M, Guttenberg Marta, Otto Edgar A, Kaplan Bernard S

Abstract excerpt

We report on five consecutive sibs three with fatal renal-hepatic-pancreatic dysplastic (RHPD) syndrome and two pregnancies ending in early abortion. Three of the fetuses reached term and two survived for 15 and 58 days. They had diffusely cystic kidneys with absence of the distal collecting tubules, hepatic fibrosis, bile duct paucity, and pancreatic fibrosis with irregularly dilated ducts. These findings...

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Source

Identifiers

PMID: 23686967
DOI: 10.1002/ajmg.a.35958

Genes

NPHP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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