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Results 1 - 10 of 12 for Oculocutaneous albinism type 3
Did you mean "oculo cutaneous" albinism type 3?
  1. Oculocutaneous albinism 
    ... Registry: Oculocutaneous albinism type 1B Genetic Testing Registry: Oculocutaneous albinism type 3 Genetic Testing Registry: Oculocutaneous albinism type 4 Genetic ...
    https://medlineplus.gov/genetics/condition/oculocutaneous-albinism - Genetics
  2. TYRP1 gene 
    ... the TYRP1 gene have been found to cause oculocutaneous albinism type 3. This condition includes a form of albinism called ... on PubMed Sarangarajan R, Boissy RE. Tyrp1 and oculocutaneous albinism type 3. Pigment Cell Res. 2001 Dec;14(6):437- ...
    https://medlineplus.gov/genetics/gene/tyrp1 - Genetics
  3. OCA2 gene 
    ... M, King RA. P gene mutations associated with oculocutaneous albinism type II (OCA2). Hum Mutat. 2005 Mar;25(3):323. doi: 10.1002/humu.9318. Citation on ...
    https://medlineplus.gov/genetics/gene/oca2 - Genetics
  4. HPS3 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/hps3 - Genetics
  5. TYR gene 
    ... Oetting WS, Fryer JP, Shriram S, King RA. Oculocutaneous albinism type 1: the last 100 years. Pigment Cell Res. 2003 Jun;16(3):307-11. doi: 10.1034/j.1600-0749. ...
    https://medlineplus.gov/genetics/gene/tyr - Genetics
  6. HPS1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/hps1 - Genetics
  7. MC1R gene 
    ... WS. MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). Am J Hum Genet. 2003 Sep;73(3):638-45. doi: 10.1086/377569. Epub 2003 ...
    https://medlineplus.gov/genetics/gene/mc1r - Genetics
  8. 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 ...
    https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome - Genetics
  9. SLC45A2 gene 
    ... Oono T, Iwamatsu H, Kono M, Tomita Y. Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes. Pigment Cell Res. 2006 Oct;19(5):451-3. doi: 10.1111/j.1600-0749.2006.00332. ...
    https://medlineplus.gov/genetics/gene/slc45a2 - Genetics
  10. Ocular albinism 
    ... DEAFNESS; OASD ALBINISM, OCULAR, TYPE I; OA1 ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B ... Mutational analysis of the OA1 gene in ocular albinism. Ophthalmic Genet. 2003 Sep;24(3):167-73. doi: 10.1076/opge.24.3. ...
    https://medlineplus.gov/genetics/condition/ocular-albinism - Genetics
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