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Article

Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.

Pediatric nephrology (Berlin, Germany) - 1 Oct 2017

Bruechle Nadia Ortiz, Steuernagel Peter, Zerres Klaus, Kurth Ingo, Eggermann Thomas, Knopp Cordula

Abstract excerpt

BACKGROUND: Meckel-Gruber syndrome (MKS, OMIM #607361) is a rare pre- or perinatal lethal autosomal recessive ciliopathy caused by mutations in at least 12 known genes. It has a clinical and genetic overlap with other viable ciliopathies, especially Joubert syndrome and Joubert syndrome-related disorders. MKS is characterized by multicystic kidney dysplasia, central nervous system malformations (usually occipital...

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Source

Identifiers

PMID: 28620746
DOI: 10.1007/s00467-017-3710-8

Genes

TMEM67

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.PMID 28620746Read ↗

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