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

doi:10.1016/j.ophtha.2006.10.034

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Article

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

Ophthalmology - 1 Jul 2007

Paunescu K, Preising M N, Janke B, Wissinger B, Lorenz B

Abstract excerpt

PURPOSE: To describe the genotype-phenotype correlation in a German family with a novel CRX mutation and to perform a comparative analysis of published cases. DESIGN: Retrospective observational case series, systematic review, and comparative analysis of the literature. PARTICIPANTS: Four related patients with progressive retinal degeneration. METHODS: Mutation screening by single-strand polymorphism analysis and...

Topics

Adult
Aged
Color Perception Tests
Disease Progression
Electroretinography
Female
Fundus Oculi
Genotype
Heterozygote
Homeodomain Proteins
Humans
Hyperopia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Mutation

Night Blindness

Nystagmus, Pathologic

Open Reading Frames

Pedigree

Source

Open in PubMed

Identifiers

PMID: 17320181
DOI: 10.1016/j.ophtha.2006.10.034

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