Childhood‐onset progressive dystonia associated with pathogenic truncating variants in CHD8

Originally described as a risk factor for autism, CHD8 loss‐of‐function variants have recently been associated with a wider spectrum of neurodevelopmental abnormalities. We further expand the CHD8‐related phenotype with the description of two unrelated patients who presented with childhood‐onset pro...

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Detalles Bibliográficos
Autores principales: Doummar, Diane, Treven, Marco, Qebibo, Leila, Devos, David, Ghoumid, Jamal, Ravelli, Claudia, Kranz, Gottfried, Krenn, Martin, Demailly, Diane, Cif, Laura, Davion, Jean‐Baptiste, Zimprich, Fritz, Burglen, Lydie, Zech, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8528468/
https://www.ncbi.nlm.nih.gov/pubmed/34415117
http://dx.doi.org/10.1002/acn3.51444

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