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Germline mutations in retinoma patients: Relevance to low-penetrance and low-expressivity molecular basis
Molecular Vision, 04/21/09
Abouzeid H et al. - This study is the largest series of mutations of consecutive retinoma patients. The present data suggest that the type of inherited mutations underlying retinoma is undistinguishable from RB related ones, i.e., largely dominated by truncating mutants. This finding is in contrast with the RB1 genotypic spectrum of mutations associated with low-penetrance RB, i.e., nontruncating mutants. The molecular mechanism underlying low-penetrance and attenuated expressivity appeared to be distinct.
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Is ethnicity a risk factor for severe retinopathy of prematurity
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