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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...
Autores principales: | Lee, Sang Yoon, Lee, Eun Joo, Byun, Jun Chul, Jang, Kyung Mi, Kim, Sae Yoon, Hwang, Su-Kyeong |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Yeungnam University College of Medicine
2020
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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 |
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