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.
References in periodicals archive ?
Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.
delta GA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual.
Genetics of oculocutaneous albinism and its clinical analysis
The third locus of oculocutaneous albinism OCA3 is positioned on long arm of chromosome 9 (9p23).
P gene mutations associated with oculocutaneous albinism type II (OCA2).
MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.
Amelanotic metastatic melanoma in a patient with oculocutaneous albinism.
Kelly, from Bangor in Co Down, has oculocutaneous albinism - a rare condition which affects the pigment in eyes, hair and skin.
The most common type of albinism is called oculocutaneous albinism, meaning the hair, skin and eyes are all without pigment.

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