Hps11 And Oca8: Two New Types Of Albinism Associated With Mutations In Bloc1s5 And Dct Genes

PIGMENT CELL & MELANOMA RESEARCH(2021)

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摘要
Albinism is a rare genetic condition associated with profound visual alterations and a variable hypopigmentation phenotype. The impairment of the visual system includes diagnostic foveal hypoplasia along with misrouting of retinal axons at the optic chiasm, whose consequences are a reduced visual acuity and altered stereoscopic vision, respectively. It is assumed that between 1:10,000-20,000 newborns can be a person with albinism, with great variations depending on world areas.
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