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Article

Hereditary thrombophilia in a family with three independent protein S and C mutations. A cause of adverse perinatal outcome.

European journal of obstetrics, gynecology, and reproductive biology - 1 Oct 1998

Schild R L, Lobb M O, Voke J M

Abstract excerpt

A non-related couple with two independent protein S and a protein C mutation had two of their three children suffering from severe thrombosis resulting in neonatal death of the firstborn. With prenatal testing an accurate prediction of phenotype was possible for the second child but the third infant was more severely affected than had been predicted from the genotype.

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Source

Identifiers

PMID: 9846686
DOI: 10.1016/s0301-2115(98)00145-6

Provenance

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.

Related research

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Hereditary thrombophilia in a family with three independent protein S and C mutations. A cause of adverse perinatal outcome.PMID 9846686Read ↗

Severe perinatal thrombosis in double and triple heterozygous offspring of a family segregating two independent protein S mutations and a protein C mutation.Semantic proximity Read ↗

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Clarification of the risk for venous thrombosis associated with hereditary protein S deficiency by investigation of a large kindred with a characterized gene defect.Semantic proximity Read ↗

Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S.Semantic proximity Read ↗

An unknown genetic defect increases venous thrombosis risk, through interaction with protein C deficiency.Semantic proximity Read ↗

Dual genetic abnormality in the coagulation pathway as a cause of familial thrombophilia.Semantic proximity Read ↗

Gene mutations in 21 unrelated cases of phenotypic heterozygous protein C deficiency and thrombosis. Protein C Study Group.Semantic proximity Read ↗

Protein C deficiency and venous thrombosis--the search for the second genetic defect.Semantic proximity Read ↗

Genetic screening of candidate genes for a prothrombotic interaction with type I protein C deficiency in a large kindred.Semantic proximity Read ↗

Venous thrombosis after caesarean section in a young woman with homozygous APC resistance and type I protein S deficiency.Semantic proximity Read ↗

Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V leiden.Semantic proximity Read ↗

Factor V Leiden: an additional risk factor for thrombosis in protein S deficient families?Semantic proximity Read ↗

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