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Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation

Albinism is a genetic disorder, present worldwide, caused by mutations in genes affecting melanin production or transport in the skin, hair and eyes. To date, mutations in at least 20 different genes have been identified. Oculo-cutaneous Albinism type IV (OCA4) is the most frequent form in Asia but...

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Detalles Bibliográficos
Autores principales: Moreno-Artero, Ester, Morice-Picard, Fanny, Lasseaux, Eulalie, Robert, Matthieu P., Coste, Valentine, Michaud, Vincent, Leclerc-Mercier, Stéphanie, Bremond-Gignac, Dominique, Arveiler, Benoit, Hadj-Rabia, Smail
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777904/
https://www.ncbi.nlm.nih.gov/pubmed/36553465
http://dx.doi.org/10.3390/genes13122198