Diagnostic challenges in retinitis pigmentosa: Genotypic multiplicity and phenotypic variability

Current Genomics

Volumn 12, Issue 4, 2011, Pages 267-275

  Chang, Susie ^a   Vaccarella, Leah ^a   Olatunji, Sunday ^a   Cebulla, Colleen ^a   Christoforidis, John ^a  

^a THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

Clinical manifestation; Genetic testing; Genotype phenotype correlation; Heterogeneity; Phenotypic variation; Retinitis pigmentosa

Indexed keywords

ARTICLE; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; ONSET AGE; PHENOTYPIC VARIATION; RETINITIS PIGMENTOSA;

EID: 79959954905     PISSN: 13892029     EISSN: 18755488     Source Type: Journal    
DOI: 10.2174/138920211795860116     Document Type: Article

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