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

Hafdaoui, Sara; Ciaccio, Claudia; Castellotti, Barbara; Sciacca, Francesca L; Pantaleoni, Chiara; D'Arrigo, Stefano.

Affiliation

Hafdaoui S; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ciaccio C; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Castellotti B; Department of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Sciacca FL; Laboratory of Cytogenetic, Neurological Biochemistry and Neuropharmacology Unit, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Pantaleoni C; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
D'Arrigo S; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Front Neurol ; 14: 1199095, 2023.

Article in En | MEDLINE | ID: mdl-37545716