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Severe white matter damage in SHANK3 deficiency: a human and translational study

OBJECTIVE: Heterozygous SHANK3 mutations or partial deletions of the long arm of chromosome 22, also known as Phelan–McDermid syndrome, result in a syndromic form of the autism spectrum as well as in global developmental delay, intellectual disability, and several neuropsychiatric comorbidities. The...

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Detalles Bibliográficos
Autores principales: Jesse, Sarah, Müller, Hans‐Peter, Schoen, Michael, Asoglu, Harun, Bockmann, Juergen, Huppertz, Hans‐Juergen, Rasche, Volker, Ludolph, Albert C., Boeckers, Tobias M., Kassubek, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6952316/
https://www.ncbi.nlm.nih.gov/pubmed/31788990
http://dx.doi.org/10.1002/acn3.50959

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