Neurodevelopmental disorder with dystonia due to SOX6 mutations

BACKGROUND: Mutations in SOX6 have recently been recognized as a new molecular cause of neurodevelopmental disorders characterized by intellectual disability, behavioral changes, and nonspecific facial and digital skeletal abnormalities. To date, <25 cases have been reported in the literature. ME...

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Detalles Bibliográficos
Autores principales: Schneider, Susanne A., Mueller, Christine, Biskup, Saskia, Fietzek, Urban M., Schroeder, Andreas Sebastian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747553/
https://www.ncbi.nlm.nih.gov/pubmed/36069193
http://dx.doi.org/10.1002/mgg3.2051

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747553/
https://www.ncbi.nlm.nih.gov/pubmed/36069193
http://dx.doi.org/10.1002/mgg3.2051

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