| Literature DB >> 21056933 |
M Biegstraaten1, I N van Schaik, J M F G Aerts, M Langeveld, M M A M Mannens, L J Bour, E Sidransky, N Tayebi, E Fitzgibbon, C E M Hollak.
Abstract
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 with a severe phenotype, as well as the occurrence of highly discordant phenotypes in a pair of monozygotic twins, is discussed.Entities:
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Year: 2010 PMID： 21056933 PMCID： PMC3352676 DOI： 10.1016/j.bcmd.2010.10.007
Source DB: PubMed Journal: Blood Cells Mol Dis ISSN： 1079-9796 Impact factor: 3.039