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Article

MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.

The Journal of pediatrics - 1 Sept 2009

Gunay-Aygun Meral, Parisi Melissa A, Doherty Dan, Tuchman Maya, Tsilou Ekaterini, Kleiner David E, Huizing Marjan, Turkbey Baris, Choyke Peter, Guay-Woodford Lisa, Heller Theo, Szymanska Katarzyna, Johnson Colin A, Glass Ian, Gahl William A

Abstract excerpt

OBJECTIVES: To describe 3 children with mutations in a Meckel syndrome gene (MKS3), with features of autosomal recessive polycystic kidney disease (ARPKD), nephronophthisis, and Joubert syndrome (JS). STUDY DESIGN: Biochemical evaluations, magnetic resonance and ultrasound imaging, electroretinograms, IQ testing, and sequence analysis of the PKHD1 and MKS3 genes were performed. Functional consequences of the MKS3...

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Source

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Identifiers

PMID: 19540516
DOI: 10.1016/j.jpeds.2009.03.045
PMCID: PMC2925444

Genes

PKHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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