A new hypothesis of OCA1B

@article{Chiang2008ANH,
  title={A new hypothesis of OCA1B},
  author={Pei-Wen Chiang and J. Drautz and A. Tsai and E. Spector and C. Clericuzio},
  journal={American Journal of Medical Genetics Part A},
  year={2008},
  volume={146A}
}
  • Pei-Wen Chiang, J. Drautz, +2 authors C. Clericuzio
  • Published 2008
  • Biology, Medicine
  • American Journal of Medical Genetics Part A
  • Pigmentation is a polygenic trait determined primarily by the amount and type of pigments [Yamaguchi et al., 2007. [...] Key Method The 6-year-old boy was ascertained due to nystagmus at age of 2 months. Albinism was later questioned due to deficient vision, light hair, light skin color and foveal hypoplasia. The sister was evaluated at 3 years due to exotropia. She also has significant hypopigmentation, blonde hair, brown irides with no history of nystagmus, foveal hypoplasia or decreased vision. X-linked OA1…Expand Abstract
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