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Article

[Genetic complexity of ciliopathies and novel genes identification].

Medecine sciences : M/S - 1 Nov 2014

Bachmann-Gagescu Ruxandra

Abstract excerpt

Ciliopathies are a large group of human disorders caused by dysfunction of primary or motile cilia and unified by their overlapping clinical features (brain malformations, retinal dystrophy, cystic kidney disease, liver fibrosis and skeletal abnormalities). Ciliopathies are mendelian disorders with prominent genetic heterogeneity and marked allelism between different clinical entities, which are in part explained...

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Identifiers

PMID: 25388584
DOI: 10.1051/medsci/20143011016

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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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