Results 161 to 170 of about 3,749 (193)
Some of the next articles are maybe not open access.
Annales de pediatrie, 1992
Oculocutaneous albinism (OCA) is an inherited condition characterized by hypopigmentation of the skin, hair, and eyes. Ocular involvement is often severe with photophobia, decreased visual acuity due to foveal hypoplasia, nystagmus, and strabism secondary to defective routing of optic axons in the chiasma.
J P, Lacour, J P, Ortonne
openaire +1 more source
Oculocutaneous albinism (OCA) is an inherited condition characterized by hypopigmentation of the skin, hair, and eyes. Ocular involvement is often severe with photophobia, decreased visual acuity due to foveal hypoplasia, nystagmus, and strabism secondary to defective routing of optic axons in the chiasma.
J P, Lacour, J P, Ortonne
openaire +1 more source
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.
openaire +3 more sources
Oculocutaneous albinism spectrum
American Journal of Medical Genetics Part A, 2009Pei-Wen, Chiang +2 more
openaire +2 more sources
Oculocutaneous Albinism in Mozambique
Ophthalmology Retina, 2018Mun Faria, Ana Fonseca
openaire +2 more sources
Genetics of non‐syndromic and syndromic oculocutaneous albinism in human and mouse
Pigment Cell and Melanoma Research, 2021Almudena Fernández +2 more
exaly
[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
openaire +1 more source
[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
openaire +1 more source