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Article

Novel frameshift mutations in CRX associated with Leber congenital amaurosis.

Human mutation - 1 Dec 2001

Rivolta C, Peck N E, Fulton A B, Fishman G A, Berson E L, Dryja T P

Abstract excerpt

Mutations in CRX, a photoreceptor-specific transcription factor, can cause Leber congenital amaurosis (LCA), cone-rod dystrophy (CORD), and retinitis pigmentosa (RP), all of which feature severe visual impairment. Upon screening 55 patients with Leber congenital amaurosis, 75 patients with cone-rod dystrophy, 13 with cone dystrophy, and 36 with recessive or isolate RP for changes in the CRX sequence, we found two...

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Source

Identifiers

PMID: 11748859
DOI: 10.1002/humu.1243

Genes

CRX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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