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Article

Tuberous sclerosis complex: genotype/phenotype correlation of retinal findings.

Ophthalmology - 1 Sept 2012

Aronow Mary E, Nakagawa Jo Anne, Gupta Ajay, Traboulsi Elias I, Singh Arun D

Abstract excerpt

OBJECTIVE: To evaluate genotype/phenotype correlations in individuals with astrocytic hamartoma (AH) and retinal achromic patch (AP) in the setting of tuberous sclerosis complex (TSC). DESIGN: Retrospective consecutive case series. PARTICIPANTS: A total of 132 patients enrolled in the Cleveland Clinic Foundation Tuberous Sclerosis Program (CCF-TSCP) and 907 patients from the Tuberous Sclerosis Alliance (TSC-A)....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22608477
DOI: 10.1016/j.ophtha.2012.03.020

Genes

TSC2
TSC1

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