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Article

Intragenic duplication in the PKHD1 gene in autosomal recessive polycystic kidney disease.

BMC medical genetics - 26 Oct 2015

Miyazaki Jun, Ito Mayuko, Nishizawa Haruki, Kato Takema, Minami Yukito, Inagaki Hidehito, Ohye Tamae, Miyata Masafumi, Boda Hiroko, Kiriyama Yuka, Kuroda Makoto, Sekiya Takao, Kurahashi Hiroki, Fujii Takuma

Abstract excerpt

BACKGROUND: In the present study, we report on a couple who underwent prenatal genetic diagnosis for autosomal recessive polycystic kidney disease (ARPKD). CASE PRESENTATION: This healthy couple had previously had a healthy boy but had experienced two consecutive neonatal deaths due to respiratory distress resulting from pulmonary hypoplasia caused by oligohydramnios. The woman consulted our facility after she...

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Identifiers

PMID: 26502924
DOI: 10.1186/s12881-015-0245-3
PMCID: PMC4623244

Genes

PKHD1

Variants

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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