Oculocutaneous albinism spectrum

@article{Chiang2009OculocutaneousAS,
  title={Oculocutaneous albinism spectrum},
  author={Pei-Wen Chiang and E. Spector and A. Tsai},
  journal={American Journal of Medical Genetics Part A},
  year={2009},
  volume={149A}
}
  • Pei-Wen Chiang, E. Spector, A. Tsai
  • Published 2009
  • Biology, Medicine
  • American Journal of Medical Genetics Part A
  • Oculocutaneous albinism (OCA) types 1, 2, 3, and 4 (OMIM 203100, 203200, 203290, 611409) are characterized as hypopigmentation of eyes, skin, and hair, and are generally considered autosomal recessive disorders [Spritz et al., 1997; Grønskov et al., 2007]. Recently, we have provided evidence suggesting a new mechanism for the phenotype of OCAs [Chiang et al., 2008a,b,c]. We hypothesize that the clinical spectrum of OCA depends on the pigmentation threshold of an affected individual: in darker… CONTINUE READING
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