Autosomal recessive ocular albinism
National Institutes of Health
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PURPOSE
The study was initiated to investigate the mutation spectrum of four OCA genes and to calculate the birth prevalence in…
Oculocutaneous albinism (OCA) types 1, 2, 3, and 4 (OMIM 203100, 203200, 203290, 611409) are characterized as hypopigmentation of…
PURPOSE
Autosomal recessive ocular albinism (AROA) is a group of genetic disorders in which reduced pigmentation of the eye is…
Pigmentation is a polygenic trait determined primarily by the amount and type of pigments [Yamaguchi et al., 2007]. The spectrum…
Waardenburg syndrome (WS) is a clinically and genetically heterogeneous disease accounting for >2% of the congenitally deaf…
Autosomal recessive ocular albinism (AROA) is a disorder characterized by reduced pigmentation of the retina and iris…
UNLABELLED
After a 4-year multidisciplinary study of albinism our findings will be presented here. Over a hundred albinos were…