Article
Compound heterozygosity of the protein S-gene as a cause of severe cerebral sinovenous thrombosis in a 7-year-old child.
Klinische Padiatrie - 1 May 2010
Hainmann I, Korinthenberg R, Oldenburg J, Pavlova A, Mader I, Zieger B
Abstract excerpt
The genotype-phenotype relationship of compound heterozygous protein S-deficiency in a 7-year-old girl with reduced protein S-levels and a severe cerebral sinovenous thrombosis is illustrated. In this patient we identified a novel deletion in the protein S-gene causing a compound heterozygous sta...
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