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Results 1 - 8 of 8 for Abnormality of skin pigmentation
  1. KRT5 gene 
    ... to the development of different types of skin abnormalities. Additionally, a ... skin pigmentation. This disruption of melanosome transport is thought to ...
    https://medlineplus.gov/genetics/gene/krt5 - Genetics
  2. PAX3 gene 
    ... do not develop in certain areas of the skin, hair, eyes, and inner ear, ... and muscles, producing abnormalities of the arms and hands in people with ...
    https://medlineplus.gov/genetics/gene/pax3 - Genetics
  3. ERCC6 gene 
    ... and have freckled skin or other changes in skin coloring (pigmentation). The known mutation, which is written as Arg77Ter or R77X, replaces the amino acid arginine with a premature stop signal at ... Without this protein, skin cells cannot repair DNA damage caused by UV ...
    https://medlineplus.gov/genetics/gene/ercc6 - Genetics
  4. ERCC8 gene 
    ... and have freckled skin or other changes in skin coloring (pigmentation). The known mutation replaces the amino acid tryptophan ...
    https://medlineplus.gov/genetics/gene/ercc8 - Genetics
  5. MLPH gene 
    ... trapping melanin within these cells and preventing normal pigmentation of skin and hair. More About This Health Condition exophilin- ...
    https://medlineplus.gov/genetics/gene/mlph - Genetics
  6. RAB27A gene 
    ... trapping melanin within these cells and preventing normal pigmentation of skin and hair. A loss of Rab27a function in ...
    https://medlineplus.gov/genetics/gene/rab27a - Genetics
  7. MYO5A gene 
    ... trapping melanin within these cells and preventing normal pigmentation of skin and hair. A loss of myosin Va in ...
    https://medlineplus.gov/genetics/gene/myo5a - Genetics
  8. GPR143 gene 
    ... are related to vision loss and other eye abnormalities in people with ocular albinism.Most forms of ...
    https://medlineplus.gov/genetics/gene/gpr143 - Genetics