Articles with "albino patients" as a keyword



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Clinical evaluation and molecular screening of a large consecutive series of albino patients

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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… read more here.

Keywords: consecutive series; clinical evaluation; albino; albino patients ... See more keywords