Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort

Oculocutaneous albinism (OCA) is a genetic disorder characterized by skin, hair, and eye hypopigmentation due to a reduction or absence of melanin. Clinical manifestations include vision problems and a high susceptibility to skin cancer. In its non-syndromic form, OCA is associated with six genes an...

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Detalles Bibliográficos
Autores principales: Schidlowski, Laire, Liebert, Fernando, Iankilevich, Pérola Grupenmacher, Rebellato, Priscila Regina Orso, Rocha, Rafaela Andrade, Almeida, Nadia Aparecida Pereira, Jain, Aayushee, Wu, Yiming, Itan, Yuval, Rosati, Roberto, Prando, Carolina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198815/
https://www.ncbi.nlm.nih.gov/pubmed/32411182
http://dx.doi.org/10.3389/fgene.2020.00397

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