Two siblings with Bloom's syndrome exhibit different clinical features: possible effect of sex.

Abstract excerpt

Bloom's syndrome is a rare autosomal recessive disease. All patients with Bloom's syndrome have prenatally onset growth retardation and an increased tendency to develop various types of cancer. Features other than these are not constant and may not be present in some of the patients. Reason for the phenotypic heterogeneity is not clear. Different mutations in the same locus may explain the heterogeneous...

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