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Thrombophilia due to protein C deficiency, autosomal recessive

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Description

Autosomal recessive protein C deficiency resulting from homozygous or compound heterozygous PROC mutations is a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia (Millar et al., 2000).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

17

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Genes

External Links

  • OMIM

    612304

  • Orphanet
  • HPO
  • Medgen

    C2676759

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