Increasing the complexity: new genes and new types of albinism

@article{Montoliu2014IncreasingTC,
  title={Increasing the complexity: new genes and new types of albinism},
  author={Llu{\'i}s Montoliu and Karen Gr{\o}nskov and Aihua Wei and M{\'o}nica M{\'a}rtinez-Garc{\'i}a and Almudena Fern{\'a}ndez and Beno{\^i}t Arveiler and Fanny Morice-Picard and Saima Riazuddin and Tamio Suzuki and Zubair M. Ahmed and Thomas Rosenberg and Wei Li},
  journal={Pigment Cell \& Melanoma Research},
  year={2014},
  volume={27}
}
Albinism is a rare genetic condition globally characterized by a number of specific deficits in the visual system, resulting in poor vision, in association with a variable hypopigmentation phenotype. This lack or reduction in pigment might affect the eyes, skin, and hair (oculocutaneous albinism, OCA), or only the eyes (ocular albinism, OA). In addition, there are several syndromic forms of albinism (e.g. Hermansky–Pudlak and Chediak–Higashi syndromes, HPS and CHS, respectively) in which the… Expand
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