Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia

BACKGROUND: Pathogenic variants of G-protein coupled receptor 143 (GPR143) gene often leads to ocular albinism type I (OA1) characterized by nystagmus, iris and fundus hypopigmentation, and foveal hypoplasia. In this study, we identified a novel hemizygous nonsense mutation in GPR143 that caused an...

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Detalles Bibliográficos
Autores principales: Mao, Xiying, Chen, Mingkang, Yu, Yan, Liu, Qinghuai, Yuan, Songtao, Fan, Wen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8011130/
https://www.ncbi.nlm.nih.gov/pubmed/33785018
http://dx.doi.org/10.1186/s12886-021-01905-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8011130/
https://www.ncbi.nlm.nih.gov/pubmed/33785018
http://dx.doi.org/10.1186/s12886-021-01905-7

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