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A new type of oculocutaneous albinism with a novel OCA2 mutation

Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders, characterized by hypopigmentation of the eyes, skin, and hair, which result in ocular abnormalities and a risk of developing skin cancer. Currently, there is no ophthalmologic procedure or drug that prevents the cl...

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Detalles Bibliográficos
Autores principales: Lee, Sang Yoon, Lee, Eun Joo, Byun, Jun Chul, Jang, Kyung Mi, Kim, Sae Yoon, Hwang, Su-Kyeong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Yeungnam University College of Medicine 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8016618/
https://www.ncbi.nlm.nih.gov/pubmed/32741191
http://dx.doi.org/10.12701/yujm.2020.00339