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Published in 2017 at "Journal of Human Genetics"
DOI: 10.1038/jhg.2016.123
Abstract: Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. In this study we recruited 321 albino patients and screened them…
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Keywords:
consecutive series;
clinical evaluation;
albino;
albino patients ... See more keywords