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Biallelic and Monoallelic Variants in PLXNA1 Are Implicated in a Novel Neurodevelopmental Disorder with Variable Cerebral and Eye Anomalies

Gabriel C. Dworschak,Jaya Punetha,Jeshurun C. Kalanithy,Enrico Mingardo,Haktan B. Erdem,Zeynep C. Akdemir,Ender Karaca,Tadahiro Mitani,Dana Marafi,Jawid M. Fatih,Shalini N. Jhangiani,Jill V. Hunter,Tikam Chand Dakal,Bhanupriya Dhabhai,Omar Dabbagh,Hessa S. Alsaif,Fowzan S. Alkuraya,Reza Maroofian,Henry Houlden,Stephanie Efthymiou,Natalia Dominik,Vincenzo Salpietro,Tipu Sultan,Shahzad Haider,Farah Bibi,Holger Thiele,Julia Hoefele,Korbinian M. Riedhammer,Matias Wagner,Ilaria Guella,Michelle Demos,Boris Keren,Julien Buratti,Perrine Charles,Caroline Nava,Delphine Héron,Solveig Heide,Elise Valkanas,Leigh B. Waddell,Kristi J. Jones,Emily C. Oates,Sandra T. Cooper,Daniel MacArthur,Steffen Syrbe,Andreas Ziegler,Konrad Platzer,Volkan Okur,Wendy K. Chung,Sarah A. O’Shea,Roy Alcalay,Stanley Fahn,Paul R. Mark,Renzo Guerrini,Annalisa Vetro,Beth Hudson,Rhonda E. Schnur,George E. Hoganson,Jennifer E. Burton,Meriel McEntagart,Tobias Lindenberg,Öznur Yilmaz,Benjamin Odermatt,Davut Pehlivan,Jennifer E. Posey,James R. Lupski,Heiko Reutter

Genetics in Medicine（2021）

引用 27|浏览52
关键词
Neural Development,Neuronal polarity,Neurofilament Mutations
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