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Article

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

Human mutation - 1 Oct 2010

Coppieters Frauke, Lefever Steve, Leroy Bart P, De Baere Elfride

Abstract excerpt

Ciliopathies are an emerging group of disorders, caused by mutations in ciliary genes. One of the most intriguing disease genes associated with ciliopathies is CEP290, in which mutations cause a wide variety of distinct phenotypes, ranging from isolated blindness over Senior-Loken syndrome (SLS), nephronophthisis (NPHP), Joubert syndrome (related disorders) (JS[RD]), Bardet-Biedl syndrome (BBS), to the lethal...

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Identifiers

PMID: 20690115
DOI: 10.1002/humu.21337

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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CEP290, a gene with many faces: mutation overview and presentation of CEP290base.PMID 20690115Read ↗

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