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Autosomal recessive ocular albinism

 
National Institutes of Health

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2012
2012
Albinism represents a group of genetic disorders with a broad spectrum of hypopigmentary phenotypes dependent on the genetic… Expand
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Highly Cited
2009
Highly Cited
2009
PURPOSE The study was initiated to investigate the mutation spectrum of four OCA genes and to calculate the birth prevalence in… Expand
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2009
2009
Oculocutaneous albinism (OCA) types 1, 2, 3, and 4 (OMIM 203100, 203200, 203290, 611409) are characterized as hypopigmentation of… Expand
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Highly Cited
2008
Highly Cited
2008
PURPOSE Autosomal recessive ocular albinism (AROA) is a group of genetic disorders in which reduced pigmentation of the eye is… Expand
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2008
2008
Pigmentation is a polygenic trait determined primarily by the amount and type of pigments [Yamaguchi et al., 2007]. The spectrum… Expand
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Highly Cited
1997
Highly Cited
1997
Waardenburg syndrome (WS) is a clinically and genetically heterogeneous disease accounting for >2% of the congenitally deaf… Expand
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Highly Cited
1995
Highly Cited
1995
Autosomal recessive ocular albinism (AROA) is a disorder characterized by reduced pigmentation of the retina and iris… Expand
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1995
1995
 
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1987
1987
UNLABELLED After a 4-year multidisciplinary study of albinism our findings will be presented here. Over a hundred albinos were… Expand
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