Genetic Findings as the Potential Basis of Personalized Pharmacotherapy in Phelan-McDermid Syndrome

Phelan-McDermid syndrome (PMS) is a genetic disorder often characterized by autism or autistic-like behavior. Most cases are associated with haploinsufficiency of the SHANK3 gene resulting from deletion of the gene at 22q13.3 or from a pathogenic variant in the gene. Treatment of PMS often targets S...

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Detalles Bibliográficos
Autores principales: Dyar, Brianna, Meaddough, Erika, Sarasua, Sara M., Rogers, Curtis, Phelan, Katy, Boccuto, Luigi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8392667/
https://www.ncbi.nlm.nih.gov/pubmed/34440366
http://dx.doi.org/10.3390/genes12081192

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