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Xu, R. Oculocutaneous Albinism. Encyclopedia. Available online: https://encyclopedia.pub/entry/4642 (accessed on 26 September 2026).
Xu R. Oculocutaneous Albinism. Encyclopedia. Available at: https://encyclopedia.pub/entry/4642. Accessed September 26, 2026.
Xu, Rita. "Oculocutaneous Albinism" Encyclopedia, https://encyclopedia.pub/entry/4642 (accessed September 26, 2026).
Xu, R. (2020, December 24). Oculocutaneous Albinism. In Encyclopedia. https://encyclopedia.pub/entry/4642
Xu, Rita. "Oculocutaneous Albinism." Encyclopedia. Web. 24 December, 2020.
Oculocutaneous Albinism
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/oculocutaneous-albinism

Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes.

genetic conditions

References

  1. Brilliant MH. The mouse p (pink-eyed dilution) and human P genes,oculocutaneous albinism type 2 (OCA2), and melanosomal pH. Pigment Cell Res. 2001Apr;14(2):86-93. Review.
  2. Grønskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007 Nov 2;2:43. Review.
  3. Hayashi M, Suzuki T. Oculocutaneous Albinism Type 4. 2005 Nov 17 [updated 2017Sep 7]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1510/
  4. Inagaki K, Suzuki T, Shimizu H, Ishii N, Umezawa Y, Tada J, Kikuchi N, Takata M, Takamori K, Kishibe M, Tanaka M, Miyamura Y, Ito S, Tomita Y. Oculocutaneousalbinism type 4 is one of the most common types of albinism in Japan. Am J HumGenet. 2004 Mar;74(3):466-71.
  5. Kamaraj B, Purohit R. Mutational analysis of oculocutaneous albinism: acompact review. Biomed Res Int. 2014;2014:905472. doi: 10.1155/2014/905472.
  6. Lewis RA. Oculocutaneous Albinism Type 1. 2000 Jan 19 [updated 2013 May 16].In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1166/
  7. Lewis RA. Oculocutaneous Albinism Type 2. 2003 Jul 17 [updated 2012 Aug 16].In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1232/
  8. Montoliu L, Grønskov K, Wei AH, Martínez-García M, Fernández A, Arveiler B,Morice-Picard F, Riazuddin S, Suzuki T, Ahmed ZM, Rosenberg T, Li W. Increasingthe complexity: new genes and new types of albinism. Pigment Cell Melanoma Res.2014 Jan;27(1):11-8. doi: 10.1111/pcmr.12167.
  9. 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. Review.
  10. Rundshagen U, Zühlke C, Opitz S, Schwinger E, Käsmann-Kellner B. Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.Hum Mutat. 2004 Feb;23(2):106-10.
  11. Sarangarajan R, Boissy RE. Tyrp1 and oculocutaneous albinism type 3. PigmentCell Res. 2001 Dec;14(6):437-44. Review.
  12. Yi Z, Garrison N, Cohen-Barak O, Karafet TM, King RA, Erickson RP, Hammer MF, Brilliant MH. A 122.5-kilobase deletion of the P gene underlies the highprevalence of oculocutaneous albinism type 2 in the Navajo population. Am J HumGenet. 2003 Jan;72(1):62-72.
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Subjects: Genetics & Heredity
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Update Date: 24 Dec 2020
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