Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey

Pathogenic loss-of-function variants in the IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause intellectual disability with Rett syndrome (RTT)-like features. The aim of this study was to obtain systematic information on the natural history and extra-central nervous system (CNS) manif...

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Detalles Bibliográficos
Autores principales: Leoncini, Silvia, Boasiako, Lidia, Lopergolo, Diego, Altamura, Maria, Fazzi, Caterina, Canitano, Roberto, Grosso, Salvatore, Meloni, Ilaria, Baldassarri, Margherita, Croci, Susanna, Renieri, Alessandra, Mastrangelo, Mario, De Felice, Claudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10528631/
https://www.ncbi.nlm.nih.gov/pubmed/37761403
http://dx.doi.org/10.3390/children10091442

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10528631/
https://www.ncbi.nlm.nih.gov/pubmed/37761403
http://dx.doi.org/10.3390/children10091442

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