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Temperature-sensitive oculocutaneous albinism type 1

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Description

An extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).

ORDO

  • Mode of Inheritance

    VARIANTS

    2

    SEE THE VARIANTS →

    Genes

      External Links

      • OMIM
      • Orphanet

        352737

      • HPO
      • Medgen

        C1847132

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