Pedigree analysis of an unusual low penetrance retinoblastoma mutation resulting in multiple silent carriers and a discordant effect on monozygotic twins.

چکیده

There are few investigations into low-penetrance heritable retinoblastoma (RB) mutations and sparse reports of identical twins with RB. To our knowledge, this is the first report of monozygotic twins with molecularly proven discordant RB and the largest pedigree published describing a…

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موضوعات مرتبط

• تومورهای چشم