Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder

Genetic defects in the SHANK2 gene, encoding for synaptic scaffolding protein, are associated with a variety of neurodevelopmental conditions, including autism spectrum disorders and mild to moderate intellectual disability. Until now, limited patient clinical descriptions have been published. Only...

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Detalles Bibliográficos
Autores principales: Doddato, Gabriella, Fabbiani, Alessandra, Scandurra, Valeria, Canitano, Roberto, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9025881/
https://www.ncbi.nlm.nih.gov/pubmed/35456494
http://dx.doi.org/10.3390/genes13040688

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9025881/
https://www.ncbi.nlm.nih.gov/pubmed/35456494
http://dx.doi.org/10.3390/genes13040688

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