GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus

The ocular albinism type I (OA1) is clinically characterized by impaired visual acuity, nystagmus, iris hypopigmentation with translucency, albinotic fundus, and macular hypoplasia together with normally pigmented skin and hair. However, it is easily misdiagnosed as congenital idiopathic nystagmus i...

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Detalles Bibliográficos
Autores principales: Han, Ruifang, Wang, Xiaojuan, Wang, Dongjie, Wang, Liming, Yuan, Zhongfang, Ying, Ming, Li, Ningdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498220/
https://www.ncbi.nlm.nih.gov/pubmed/26160353
http://dx.doi.org/10.1038/srep12031

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498220/
https://www.ncbi.nlm.nih.gov/pubmed/26160353
http://dx.doi.org/10.1038/srep12031

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