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Variant recurrence confirms the existence of a FBXO31‐related spastic‐dystonic cerebral palsy syndrome

The role of genetics in the causation of cerebral palsy has become the focus of many studies aiming to unravel the heterogeneous etiology behind this frequent neurodevelopmental disorder. A recent paper reported two unrelated children with a clinical diagnosis of cerebral palsy, who carried the same...

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Detalles Bibliográficos
Autores principales: Dzinovic, Ivana, Škorvánek, Matej, Pavelekova, Petra, Zhao, Chen, Keren, Boris, Whalen, Sandra, Bakhtiari, Somayeh, Chih Jin, Sheng, Kruer, Michael C., Jech, Robert, Winkelmann, Juliane, Zech, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045898/
https://www.ncbi.nlm.nih.gov/pubmed/33675180
http://dx.doi.org/10.1002/acn3.51335