SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review

SATB2-associated syndrome (SAS) is a rare condition, and it is characterized by severe developmental delay/intellectual disability, especially severe speech delay/or absence, craniofacial abnormalities, and behavioral problems. Most of the published reports are limited to children, with little infor...

Descripción completa

Detalles Bibliográficos
Autores principales: Copelli, Matheus de Mello, Pairet, Eleonore, Atique-Tacla, Milena, Vieira, Társis Paiva, Appenzeller, Simone, Helaers, Raphaël, Vikkula, Miikka, Gil-da-Silva-Lopes, Vera Lúcia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137462/
https://www.ncbi.nlm.nih.gov/pubmed/37107640
http://dx.doi.org/10.3390/genes14040882

Ejemplares similares

Ejemplares similares