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Article

Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing.

Ophthalmic genetics - 1 Jun 2021

Mendez Rodrigo, Iqbal Sumaiya, Vishnopolska Sebastián, Martinez Cinthia, Dibner Glenda, Aliano Rocio, Zaiat Jonathan, Biagioli Germán, Fernandez Cecilia, Turjanski Adrian, Campbell Arthur J, Mercado Graciela, Marti Marcelo A

Abstract excerpt

Background: Oculocutaneous albinism (OCA) is a Mendelian disorder characterized by hypopigmentation of the skin, hair, and eyes, hypoplastic fovea, and low vision, known to be caused by mutations in the Tyrosinase (TYR) gene. Among the known TYR variants, some reduce but do not completely eliminate tyrosinase activity, allowing residual production of melanin and resulting in a contradictory assignment as either...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33599182
DOI: 10.1080/13816810.2021.1888129

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