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Article

BBS mutations modify phenotypic expression of CEP290-related ciliopathies.

Human molecular genetics - 1 Jan 2014

Zhang Yan, Seo Seongjin, Bhattarai Sajag, Bugge Kevin, Searby Charles C, Zhang Qihong, Drack Arlene V, Stone Edwin M, Sheffield Val C

Abstract excerpt

Ciliopathies are a group of heterogeneous disorders associated with ciliary dysfunction. Diseases in this group display considerable phenotypic variation within individual syndromes and overlapping phenotypes among clinically distinct disorders. Particularly, mutations in CEP290 cause phenotypically diverse ciliopathies ranging from isolated retinal degeneration, nephronophthisis and Joubert syndrome, to the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23943788
DOI: 10.1093/hmg/ddt394
PMCID: PMC3857943

Genes

BBS4

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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BBS mutations modify phenotypic expression of CEP290-related ciliopathies.PMID 23943788Read ↗

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