albinism

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albinism

[′al·bə‚niz·əm]
(biology)
The state of having colorless chromatophores, which results in the absence of pigmentation in animals that are normally pigmented.
(medicine)
A hereditary, metabolic disorder transmitted as an autosomal recessive and characterized by the inability to form melanin in the skin, hair, and eyes due to tyrosinase deficiency.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
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Medico-Genetics of Oculocutaneous Albinism; An Updated Study with Pakistani Perspective.
Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.
A dinucleotide deletion (?delta GA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual.
Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing
Genetics of oculocutaneous albinism and its clinical analysis
The third locus of oculocutaneous albinism OCA3 is positioned on long arm of chromosome 9 (9p23).
Oculocutaneous albinism. Orph J Rare Dis 2007; 2:43.
Medico-Genetics of Oculocutaneous Albinism; An Updated Study with Pakistani Perspective
Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene.
Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.
Biology and genetics of oculocutaneous albinism and vitiligo--common pigmentation disorders in southern Africa
Photochromatic lenses were provided to 3 students, and a student with oculocutaneous albinism received sun lenses with a tint and ultraviolet protection.
The efficacy of low vision devices for students specialized schools for students who are blind in Kathmandu Valley, Nepal
Amelanotic metastatic melanoma in a patient with oculocutaneous albinism. J Am Acad Dermatol 1993; 28: 895-900.
Malignant melanoma in a patient with oculocutaneous albinism. J Cutan Med Surg 2000; 4:149-152.
Does the sun play a role in the aetiology of malignant melanoma? A review

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