Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome

Introduction: Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder characterized by developmental and intellectual disability, broadening of thumbs and halluces, and characteristic facial features. Pathogenic variants in CREBBP lead to RSTS type 1 (RSTS1) and in EP300 lead to RSTS type 2 (...

Descripción completa

Detalles Bibliográficos
Autores principales: Qu’d, Dima, Schmitt, Lauren M., Leston, Amber, Harris, Jacqueline R., Slavotinek, Anne, Riddle, Ilka, Brightman, Diana S., Simpson, Brittany N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10321757/
https://www.ncbi.nlm.nih.gov/pubmed/37415602
http://dx.doi.org/10.3389/fgene.2023.1116919

Ejemplares similares

Ejemplares similares