Genetic testing for ocular albinism and oculocutaneous albinism

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for ocular albinism and oculocutaneous albinism. Ocular albinism has X-linked recessive inheritance, with a prevalence that varies from 1/40000 to 1/1000000, and is caused by mut...

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Bibliographic Details
Main Authors: Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo
Format: Article
Language:English
Published: Sciendo 2017-10-01
Series:The EuroBiotech Journal
Online Access:https://doi.org/10.24190/ISSN2564-615X/2017/S1.25