A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype.
作者信息
Soliani Luca, Spagnoli Carlotta, Salerno Grazia G, Mehine Miika, Rizzi Susanna, Frattini Daniele, Koskenvuo Juha, Fusco Carlo
机构信息
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 .
出版信息
J Neuroophthalmol. 2021 Mar 1;41(1):e85-e88. doi: 10.1097/WNO.0000000000000921.
PMID:32141982
Abstract
摘要
Zotero 插件