Compound heterozygosity of the protein s-gene as a cause of severe cerebral sinovenous thrombosis in a 7-year-old child

Klinische Padiatrie

Volumn 222, Issue 3, 2010, Pages 194-195

  Hainmann, I ^a   Korinthenberg, R ^a   Oldenburg, J ^b   Pavlova, A ^b   Mader, I ^a   Zieger, B ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

Compound heterozygous mutations; Deletion; Missense mutation; Protein S deficiency; Sinovenous thrombosis; Thrombophilia

Indexed keywords

ACETAZOLAMIDE; ANTIVITAMIN K; ENOXAPARIN; HEPARIN; LOW MOLECULAR WEIGHT HEPARIN; PROTEIN S; ANTICOAGULANT AGENT;

ARTICLE; CASE REPORT; CEREBRAL SINOVENOUS THROMBOSIS; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; DRUG DOSE INCREASE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ANALYSIS; HEPARINIZATION; HETEROZYGOSITY; HUMAN; MAGNETIC RESONANCE ANGIOGRAPHY; MISSENSE MUTATION; OCCLUSIVE CEREBROVASCULAR DISEASE; PROTEIN S DEFICIENCY; SCHOOL CHILD; THROMBOSIS PREVENTION; CEREBRAL INFARCTION; CHROMOSOME DELETION; EPILEPSY, GENERALIZED; FOLLOW UP; GENETICS; GENOTYPE; HETEROZYGOTE DETECTION; INTRACRANIAL HYPERTENSION; NUCLEOTIDE SEQUENCE; PHENOTYPE; SINUS THROMBOSIS, INTRACRANIAL; THALAMIC DISEASES;

ANTICOAGULANTS; CEREBRAL INFARCTION; CHILD; CHROMOSOME DELETION; DNA MUTATIONAL ANALYSIS; EPILEPSY, GENERALIZED; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; HETEROZYGOTE DETECTION; HUMANS; INTRACRANIAL HYPERTENSION; MAGNETIC RESONANCE ANGIOGRAPHY; MUTATION, MISSENSE; PHENOTYPE; PROTEIN S DEFICIENCY; SINUS THROMBOSIS, INTRACRANIAL; THALAMIC DISEASES;

EID: 77953171041     PISSN: 03008630     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0030-1249066     Document Type: Article

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