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Article

Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.

Ophthalmology - 1 Oct 2002

Lines Matthew A, Hébert Marc, McTaggart Kerry E, Flynn Sarah J, Tennant Matthew T, MacDonald Ian M

Abstract excerpt

PURPOSE: To reexamine a large Albertan family previously reported with a progressive cone dystrophy with variable phenotype and to map the disorder using molecular genetic techniques. DESIGN: Observational case series. PARTICIPANTS: Twenty-nine subjects (10 affected) from four generations of a large kindred were clinically examined. Twenty-three of these individuals, as well as two unaffected spouses, were...

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Source

Identifiers

PMID: 12359607
DOI: 10.1016/s0161-6420(02)01187-9

Genes

CRX
ERG

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.PMID 12359607Read ↗

Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.Semantic proximity Read ↗

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.Semantic proximity Read ↗

A recurrent arcuate retinopathy in familial cone-rod dystrophy secondary to heterozygous CRX deletion.Semantic proximity Read ↗

Multimodal Imaging in Autosomal Dominant Cone-Rod Dystrophy Caused by Novel CRX Variant.Semantic proximity Read ↗

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.Semantic proximity Read ↗

Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.Semantic proximity Read ↗

Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.Semantic proximity Read ↗

A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy.Semantic proximity Read ↗

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Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy.Semantic proximity Read ↗

Association of CRX genotypes and retinal phenotypes confounded by variable expressivity and electronegative electroretinogram.Semantic proximity Read ↗

Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.Semantic proximity Read ↗

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