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  1. Oculocutaneous albinism; Ocular albinism ... Albinism occurs when one of several genetic changes 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. ... term GeneReviews Advanced Search Help < Prev Next > Oculocutaneous Albinism and Ocular Albinism Overview Mervyn G Thomas , MBChB, PhD, FRCOphth, Jonathan ... and ocular albinism. 1. Clinical Characteristics of Oculocutaneous Albinism and Ocular Albinism Albinism is a genetically heterogeneous ...
  3. ... term GeneReviews Advanced Search Help < Prev Next > Oculocutaneous Albinism Type 4 Synonym: OCA4 Masahiro Hayashi , MD, PhD ... organizations. For information on selection criteria, click here . Albinism Database University of Minnesota MN albinismdb.med.umn. ...
  4. ... Learn more about the gene associated with Ocular albinism GPR143 Inheritance Ocular albinism type 1 is inherited ...
  5. ... Learn more about the genes associated with Oculocutaneous albinism MC1R OCA2 SLC45A2 TYR TYRP1 Additional Information from ...
  6. ... 9q22.3 between D9S162 and D9S165.[ 77 ] Oculocutaneous albinism Albinism is a major risk factor for skin ... in heterozygotes.[ 96 ] Table 6. Types of Oculocutaneous Albinism (OCA) View in own window Type Subtype Gene ...
  7. ... 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 ...
  8. ... 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. ... 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 ...
  10. ... 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 ...
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