Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families

BACKGROUND: Intellectual disability (ID) affects 1–3% of the world population. The number of genes whose dysfunctions cause intellectual disability is increasing. In addition, new gene associations are constantly being discovered, as well as specific phenotypic features for already identified geneti...

Descripción completa

Detalles Bibliográficos
Autores principales: Skoczylas, S., Jakiel, P., Płoszaj, T., Gadzalska, K., Borowiec, M., Pastorczak, A., Moczulska, H., Malarska, M., Eckersdorf-Mastalerz, A., Budzyńska, E., Zmysłowska, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545623/
https://www.ncbi.nlm.nih.gov/pubmed/37405542
http://dx.doi.org/10.1007/s10048-023-00724-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545623/
https://www.ncbi.nlm.nih.gov/pubmed/37405542
http://dx.doi.org/10.1007/s10048-023-00724-w

Ejemplares similares