Compound heterozygosity of the protein S-gene as a cause of severe cerebral sinovenous thrombosis in a 7-year-old child.
Klin Padiatr
; 222(3): 194-5, 2010 May.
Article
em En
| MEDLINE
| ID: mdl-20514628
ABSTRACT
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 levels of protein S should be further investigated by molecular diagnostics.
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Trombose dos Seios Intracranianos
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Análise Mutacional de DNA
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Deficiência de Proteína S
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Genótipo
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Triagem de Portadores Genéticos
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article