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Article

[Autosomal-recessive renal cystic disease and congenital hepatic fibrosis: clinico-anatomic case].

Arkhiv patologii - 1 Jan 2000

Rostol'tsev K V, Burenkov R A, Kuz'micheva I A

Abstract excerpt

Clinico-anatomic observation of autosomal-recessive renal cystic disease and congenital hepatic fibrosis at two fetuses from the same family was done. Mutation of His3124Tyr in 58 exon of PKHD1 gene in heterozygous state was found out. The same pathomorphological changes in the epithelium of cyst...

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Source

Identifiers

PMID: 22937583

Genes

PKHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22937583-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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