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Molecular genetics of oculocutaneous albinism
Human Molecular Genetics, 1994Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment. Type I (tyrosinase-deficient) OCA results from deficient enzymatic activity of tyrosinase, which catalyzes at least three steps in the melanin biosynthetic pathway.
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Oculocutaneous albinism spectrum
American Journal of Medical Genetics Part A, 2009Pei-Wen, Chiang +2 more
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Oculocutaneous Albinism in Mozambique
Ophthalmology Retina, 2018Mun Faria, Ana Fonseca
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[Oculocutaneous and ocular albinism].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete, 2019Albinism can be divided into oculocutaneous albinism (OCA) and ocular albinism (OA). In the differential diagnostics these can be distinguished from rarer syndromes with partial albinism, which are frequently associated with susceptibility to infections and neurological symptoms.
A S, Kubasch, M, Meurer
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Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B
American Journal of Human Genetics, 2023Stacie K Loftus
exaly
[Genetics of oculocutaneous albinism].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, 2007Albinism comprises a heterogeneous group of nonprogressive genetic disorders characterized by the absence of pigmentation in the skin, hair, and/or eyes. Hypopigmentation or complete lack of pigmentation is caused by an enzyme deficiency involving the production, metabolism, or distribution of melanin.
C, Zühlke +2 more
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Segregation analysis of brown oculocutaneous albinism
Clinical Genetics, 1986Richard A KING, Stephen S Rich
exaly