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

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...

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Bibliographic Details
Main Authors: Sara Hafdaoui, Claudia Ciaccio, Barbara Castellotti, Francesca L. Sciacca, Chiara Pantaleoni, Stefano D'Arrigo
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Neurology
Subjects:
FRMD7
idiopathic nystagmus
Turner syndrome
X-linked IIN
X-linked nystagmus
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1199095/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2023.1199095/full

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