Results 81 to 90 of about 2,978 (164)

Clinical Manifestations and Genetic Spectrum of Oculocutaneous Albinism Type 2 in Chinese Patients. [PDF]

Genes (Basel)
Chen C, Li J, Wang B, Liu J, Yu X.
europepmc   +1 more source

Living in the sun's shadow: Skin cancer and albinism in Senegal. [PDF]

JAAD Int
Mazzetto R, Cipriani L, Astou T, Pedrazzi T, Fortina AB, Piaserico S.   +5 more
europepmc   +1 more source

Cataract surgery with implantation of small aperture acrylic hydrophobic IOL to reduce photophobia in a patient affected by oculocutaneous albinism. [PDF]

Am J Ophthalmol Case Rep
Mularoni A, Mularoni K, Gaudenzi D, Mussoni G, Ravagli V, Gaudenzi F, Forlini M, Mautone L.   +7 more
europepmc   +1 more source

Oculocutaneous Albinism: An Overview

Journal of the Foundations of Ophthalmology
Albinism encompasses a group of heterogenous genetic conditions affecting the melanin synthesis pathway leading to a reduction or absence in melanin production. In ophthalmology, albinism can be broadly categorised into two groups: oculocutaneous albinism (OCA) and ocular albinism (OA).
openaire   +1 more source

Retinal Detachment in the eye of Albino - A review. [PDF]

Rom J Ophthalmol
Marshood AA.
europepmc   +1 more source

The impact of stigma on people with albinism in Africa: a narrative review. [PDF]

J Community Genet
Kromberg JG, Kerr RA.
europepmc   +1 more source

Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR. [PDF]

Eur J Hum Genet
Farooq M, Bruun GH, Sarusie MVK, Kessel L, Akhtar H, Abdullah U, Ali Z, Shah SA, Ali N, Anjum I, Doktor TK, Andresen BS, Baig SM, Larsen LA, Grønskov K.   +14 more
europepmc   +1 more source

Griscelli syndrome type 2: A rare case report of pediatric immunodeficiency and neurological implications. [PDF]

Medicine (Baltimore)
Abubakir M, Abdul Rahman N, Hamza A, Haj Kasem S, Khayata MA, Kouja D.   +5 more
europepmc   +1 more source

A Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling. [PDF]

Transl Vis Sci Technol
Surl D, Choi TI, Park JW, Don DW, Kim TY, Thomas MG, Park JS, Wei X, Bae YK, Han J, Kim CH.   +10 more
europepmc   +1 more source

Cutaneous Depigmentation in a Child With Ocular Albinism Type 1: Expanding the Clinical Phenotype. [PDF]

Cureus
Monteiro M, Fazendeiro Matos J, Sá J, Nabais Sá MJ, Queirós C.   +4 more
europepmc   +1 more source