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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 state and subsequently a symptomatic protein S-deficiency. In case of thrombosis analysis of protein S is recommended. Low...

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Identifiers

PMID: 20514628
DOI: 10.1055/s-0030-1249066

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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