Article
Role of genetic testing in retinoblastoma management at a tertiary referral centre.
Clinical & experimental ophthalmology - 1 Apr 2010
Pradhan Monika A, Ng Yvonne, Strickland Adrienne, George Peter M, Raizis Anthony, Warrington Jenny, Vincent Andrea L
Abstract excerpt
BACKGROUND: Retinoblastoma (MIM +180 200) is a malignant neoplasm affecting embryonal retina, associated with mutations in the RB1 gene. This paper investigates the results of RB1 testing in retinoblastoma management in a tertiary referral centre. METHODS: A retrospective audit of genetic testing for retinoblastoma from 2003 to 2008, to determine epidemiology, rate of mutation detection and spectrum was...
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