Article
A monozygotic twin pair with highly discordant Gaucher phenotypes.
Blood cells, molecules & diseases - 15 Jan 2011
Biegstraaten M, van Schaik I N, Aerts J M F G, Langeveld M, Mannens M M A M, Bour L J, Sidransky E, Tayebi N, Fitzgibbon E, Hollak C E M
Abstract excerpt
We describe monozygotic twin sisters, born to consanguineous Moroccan parents, who are highly discordant for the manifestations of Gaucher disease. Both carry Gaucher genotype N188S/N188S. One has severe visceral involvement, epilepsy, and a cerebellar syndrome. Her twin does not manifest any symptoms or signs of Gaucher disease but suffers from type 1 diabetes mellitus. The concurrence of a mild Gaucher mutation...
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