The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators

BACKGROUND: Pathologic mutations in SYNGAP1 cause a genetically defined form of intellectual disability (ID) with comorbid epilepsy and autistic features. While only recently discovered, pathogenicity of this gene is a relatively frequent genetic cause of classically undefined developmental delay th...

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Detalles Bibliográficos
Autores principales: Weldon, Monica, Kilinc, Murat, Lloyd Holder, J., Rumbaugh, Gavin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800089/
https://www.ncbi.nlm.nih.gov/pubmed/29402231
http://dx.doi.org/10.1186/s11689-018-9225-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800089/
https://www.ncbi.nlm.nih.gov/pubmed/29402231
http://dx.doi.org/10.1186/s11689-018-9225-1

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