Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus

Infantile idiopathic nystagmus (IIN) is an oculomotor disorder characterized by involuntary bilateral, periodic ocular oscillations, predominantly on the horizontal axis. X-linked IIN (XLIIN) is the most common form of congenital nystagmus, and the FERM domain-containing gene (FRMD7) is the most com...

Descripción completa

Detalles Bibliográficos
Autores principales: Hafdaoui, Sara, Ciaccio, Claudia, Castellotti, Barbara, Sciacca, Francesca L., Pantaleoni, Chiara, D'Arrigo, Stefano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10398378/
https://www.ncbi.nlm.nih.gov/pubmed/37545716
http://dx.doi.org/10.3389/fneur.2023.1199095

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10398378/
https://www.ncbi.nlm.nih.gov/pubmed/37545716
http://dx.doi.org/10.3389/fneur.2023.1199095

Ejemplares similares