Autosomal recessive ocular albinism

 
National Institutes of Health

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Topic mentions per year

1981-2015
01219812015

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2015
2015
PURPOSE Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented eyes (in patients with… (More)
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2012
2012
Albinism represents a group of genetic disorders with a broad spectrum of hypopigmentary phenotypes dependent on the genetic… (More)
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2009
2009
PURPOSE The study was initiated to investigate the mutation spectrum of four OCA genes and to calculate the birth prevalence in… (More)
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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… (More)
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2008
2008
PURPOSE Autosomal recessive ocular albinism (AROA) is a group of genetic disorders in which reduced pigmentation of the eye is… (More)
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1997
1997
Waardenburg syndrome (WS) is a clinically and genetically heterogeneous disease accounting for >2% of the congenitally deaf… (More)
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1995
1995
Autosomal recessive ocular albinism (AROA) is a disorder characterized by reduced pigmentation of the retina and iris… (More)
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1994
1994
BACKGROUND Type II (tyrosinase-positive) oculocutaneous albinism is an autosomal recessive disorder that has recently been mapped… (More)
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1992
1992
We describe a boy with an interstitial deletion of 6(q13-q15) and include "coarse" facial features, upslanting palpebral fissures… (More)
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1981
1981
A pedigree of X-linked ocular albinism is presented containing nine affected males and 10 heterozygous females. One carrier… (More)
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