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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2022
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| Materias: | |
| 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 |