Expansion of the genetic landscape of ERLIN2‐related disorders

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.Asn292ArgfsX26, a...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Srivastava, Siddharth, D’Amore, Angelica, Cohen, Julie S., Swanson, Lindsay C., Ricca, Ivana, Pini, Antonella, Fatemi, Ali, Ebrahimi‐Fakhari, Darius, Santorelli, Filippo M.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Brief Communications
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7187699/
https://ncbi.nlm.nih.gov/pubmed/32147972
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51007
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