A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family

BACKGROUND: Infantile nystagmus (IN) is an oculomotor disorder that is characterized by conjugate involuntary, rapid and repetitive movement of the eyes. To date, the pathogenesis of IN remains unclear. Many patients show an X-linked inheritance pattern. In this study, we explored the mutation in th...

Descripción completa

Detalles Bibliográficos
Autores principales: Chen, Junjue, Wei, Yan, Tian, Linlu, Kang, Xiaoli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323710/
https://www.ncbi.nlm.nih.gov/pubmed/30616528
http://dx.doi.org/10.1186/s12881-018-0720-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323710/
https://www.ncbi.nlm.nih.gov/pubmed/30616528
http://dx.doi.org/10.1186/s12881-018-0720-8

Ejemplares similares