Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense

Abstract

Editor—Retinoblastoma (RB) is an intraocular eye tumour with a newborn incidence of 1 in 15 000-25 000.1Of all retinoblastoma patients, 10-15% represent familial cases with an autosomal dominantly inherited predisposition...