Cargando…

Phenotypic variability to medication management: an update on fragile X syndrome

This review discusses the discovery, epidemiology, pathophysiology, genetic etiology, molecular diagnosis, and medication-based management of fragile X syndrome (FXS). It also highlights the syndrome’s variable expressivity and common comorbid and overlapping conditions. FXS is an X-linked dominant...

Descripción completa

Detalles Bibliográficos
Autores principales: Elhawary, Nasser A., AlJahdali, Imad A., Abumansour, Iman S., Azher, Zohor A., Falemban, Alaa H., Madani, Wefaq M., Alosaimi, Wafaa, Alghamdi, Ghydda, Sindi, Ikhlas A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10329374/
https://www.ncbi.nlm.nih.gov/pubmed/37420260
http://dx.doi.org/10.1186/s40246-023-00507-2