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400 results
  1. Albinism 
    https://medlineplus.gov/ency/article/001479.htm
    Oculocutaneous albinism; Ocular albinism ... Albinism occurs when one of several genetic defects makes the body unable to produce or distribute melanin . ... inherited) through families. The most severe form of albinism is called oculocutaneous albinism. People with this type ...
  2. Oculocutaneous Albinism Type 1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1166
    ... term GeneReviews Advanced Search Help < Prev Next > Oculocutaneous Albinism Type 1 Synonym: OCA1 Richard Alan Lewis , MD, ... be associated with mutation of TYR . Differential Diagnosis Albinism. The ocular features of all types of oculocutaneous ...
  3. Ocular albinism: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/ocular-albinism
    ... Learn more about the gene associated with Ocular albinism GPR143 Inheritance Ocular albinism type 1 is inherited ...
  4. Oculocutaneous albinism: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/oculocutaneous-albinism
    ... Learn more about the genes associated with Oculocutaneous albinism MC1R OCA2 SLC45A2 TYR TYRP1 Additional Information from ...
  5. GPR143 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/gpr143
    ... vision. Health Conditions Related to Genetic Changes Ocular albinism More than 60 GPR143 mutations have been identified ... people with the most common form of ocular albinism, which is called the Nettleship-Falls type or ...
  6. OCA2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/oca2
    ... of albinism. More About This Health Condition Oculocutaneous albinism More than 80 variants in the OCA2 gene have been identified in people with oculocutaneous albinism type 2. People with this form of albinism ...
  7. TYR gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/tyr
    ... retina. Health Conditions Related to Genetic Changes Oculocutaneous albinism More than 100 mutations in the TYR gene have been identified in people with oculocutaneous albinism type 1. These mutations disrupt the normal production ...
  8. TYRP1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/tyrp1
    ... produced. Health Conditions Related to Genetic Changes Oculocutaneous albinism A small number of mutations in the TYRP1 gene have been found to cause oculocutaneous albinism type 3. This condition includes a form of ...
  9. SLC45A2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/slc45a2
    ... coloring. Health Conditions Related to Genetic Changes Oculocutaneous albinism More than 20 mutations in the SLC45A2 gene are responsible for oculocutaneous albinism type 4. The most common SLC45A2 mutation in ...
  10. MC1R gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mc1r
    ... melanoma risk. More About This Health Condition Oculocutaneous albinism Certain genetic changes in the MC1R gene modify the appearance of people with oculocutaneous albinism type 2. This form of albinism, which is ...
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