A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype.

Luca Soliani Carlotta Spagnoli Grazia G Salerno Miika Mehine Susanna Rizzi Daniele Frattini Juha Koskenvuo Carlo Fusco

J Neuroophthalmol

Department of Pediatrics (LS, CS, GGS, SR, DF, CF), Child Neurology Unit, Presidio Ospedaliero Provinciale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy ; Blueprint Genetics (MM, JK), Helsinki, Finland ; and Pediatric Neurophysiology Laboratory (CF), Presidio Ospedaliero Provinciale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy .

Published: March 2021

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http://dx.doi.org/10.1097/WNO.0000000000000921	DOI Listing

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