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

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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Bibliographic Details
Main Authors: Laire Schidlowski, Fernando Liebert, Pérola Grupenmacher Iankilevich, Priscila Regina Orso Rebellato, Rafaela Andrade Rocha, Nadia Aparecida Pereira Almeida, Aayushee Jain, Yiming Wu, Yuval Itan, Roberto Rosati, Carolina Prando
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-04-01
Series:Frontiers in Genetics
Subjects:
oculocutaneous albinism
melanogenesis
sequencing
exome
TYR
SLC45A2
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00397/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2020.00397/full

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