Expansion of the genetic landscape of ERLIN2‐related disorders

Abstract ERLIN2‐related disorders are rare conditions of the motor system and clinical details are limited to a small number of prior descriptions. We here presented clinical and genetic details in five individuals (four different families) where three subjects carried a common homozygous p.Asn292Ar...

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Bibliographic Details
Main Authors: Siddharth Srivastava, Angelica D’Amore, Julie S. Cohen, Lindsay C. Swanson, Ivana Ricca, Antonella Pini, Ali Fatemi, Darius Ebrahimi‐Fakhari, Filippo M. Santorelli
Format: Article
Language:English
Published: Wiley 2020-04-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51007