Albinism, Oculocutaneous

Known as: Albinism, Oculocutaneous [Disease/Finding], Oculocutaneous Albinism, albinism oculocutaneous 
An autosomal recessive inherited disorder caused by mutations of the OCA2, SLC45A2, TYR and TYRP1 genes. It is characterized by hypopigmentation of… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1969-2017
0204019692017

Papers overview

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2005
2005
Oculocutaneous albinism type II (OCA2) is the most common form of albinism in humans. OCA2 has been previously associated with… (More)
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2004
2004
Oculocutaneous albinism (OCA) is a complex genetic disease with great clinical heterogeneity. Four different types of OCA have… (More)
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2003
2003
Oculocutaneous albinism (OCA) is a common human genetic condition resulting from mutations in at least twelve different genes… (More)
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2002
2002
Oculocutaneous albinism (OCA) is caused by reduced or deficient melanin pigmentation in the skin, hair, and eyes. OCA has… (More)
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Highly Cited
2001
Highly Cited
2001
Oculocutaneous albinism (OCA) affects approximately 1/20,000 people worldwide. All forms of OCA exhibit generalized… (More)
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Highly Cited
1998
Highly Cited
1998
BACKGROUND Hermansky-Pudlak syndrome is characterized by oculocutaneous albinism, a storage-pool deficiency, and lysosomal… (More)
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1997
1997
Oculocutaneous albinism (OCA) is the most common autosomal recessive disorder among southern African Blacks. There are three… (More)
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Highly Cited
1994
Highly Cited
1994
BACKGROUND Type II (tyrosinase-positive) oculocutaneous albinism is an autosomal recessive disorder that has recently been mapped… (More)
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1991
1991
Several types of autosomal recessive oculocutaneous albinism (OCA) are associated with abnormal tyrosinase function and a… (More)
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1989
1989
Tyrosinase-negative oculocutaneous albinism (OCA) is an inborn error of metabolism, characterized by a complete lack of melanin… (More)
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