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Results 1 - 10 of 14 for Oculocutaneous albinism type I
Did you mean "oculo cutaneous" albinism type I?
  1. Oculocutaneous albinism 
    ... eye color changes and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale ... milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those ...
    https://medlineplus.gov/genetics/condition/oculocutaneous-albinism - Genetics
  2. OCA2 gene 
    ... percentage of people with Angelman syndrome also have oculocutaneous albinism type 2. This condition occurs when people have two ... OCA2 gene have been identified in people with oculocutaneous albinism type 2. People with this form of albinism often ...
    https://medlineplus.gov/genetics/gene/oca2 - Genetics
  3. TYR gene 
    ... TYR gene have been identified in people with oculocutaneous albinism type 1. These mutations disrupt the normal production of ... which allow some melanin to be produced, cause oculocutaneous albinism type 1B (OCA1B). People with type 1B are also ...
    https://medlineplus.gov/genetics/gene/tyr - Genetics
  4. SLC45A2 gene 
    ... mutations in the SLC45A2 gene are responsible for oculocutaneous albinism type 4. The most common SLC45A2 mutation in the ... and problems with vision that are characteristic of oculocutaneous albinism type 4. More About This Health Condition MedlinePlus Genetics ...
    https://medlineplus.gov/genetics/gene/slc45a2 - Genetics
  5. MC1R gene 
    ... MC1R gene modify the appearance of people with oculocutaneous albinism type 2. This form of albinism, which is caused ... genes have many of the usual features of oculocutaneous albinism type 2; however, they typically have red hair instead ...
    https://medlineplus.gov/genetics/gene/mc1r - Genetics
  6. TYRP1 gene 
    ... the TYRP1 gene have been found to cause oculocutaneous albinism type 3. This condition includes a form of albinism ... on PubMed Sarangarajan R, Boissy RE. Tyrp1 and oculocutaneous albinism type 3. Pigment Cell Res. 2001 Dec;14(6): ...
    https://medlineplus.gov/genetics/gene/tyrp1 - Genetics
  7. HPS1 gene 
    ... E, Spritz RA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type ...
    https://medlineplus.gov/genetics/gene/hps1 - Genetics
  8. HPS3 gene 
    ... E, Spritz RA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type ...
    https://medlineplus.gov/genetics/gene/hps3 - Genetics
  9. Hermansky-Pudlak syndrome 
    ... E, Spritz RA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol. 2006 Jan;126(1):85-90. doi: ... Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome - Genetics
  10. Ocular albinism 
    ... SENSORINEURAL DEAFNESS; OASD ALBINISM, OCULAR, TYPE I; OA1 ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B PubMed Camand O, Boutboul S, Arbogast L, Roche O, Sternberg C, Sutherland J, Levin A, Heon E, Menasche M, Dufier ... the OA1 gene in ocular albinism. Ophthalmic Genet. 2003 Sep;24(3):167-73. ...
    https://medlineplus.gov/genetics/condition/ocular-albinism - Genetics
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