Investigative ophthalmology & visual science۲۰۲۵گزارش مورد۲ استنادنمایه شده در PubMed
Maxence Rateaux, Smaïl Hadj-Rabia, Rémi Barrois, Olivia Zambrowski, Vincent Michaud, Ester Moreno-Artero, Dominique Bremond-Gignac, Sophie Javerzat, Matthieu P Robert
چکیده
Albinism is a genetic disorder characterized by a defect in melanin biosynthesis. Ophthalmological and dermatological impairments vary according to the patient genotype and are highly heterogenous. Recently, variants in the DCT gene were showed to be responsible for a new type of oculocutaneous…
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DOI: 10.1167/iovs.66.2.44