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

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

<i>SATB2</i>-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...

Full description

Bibliographic Details
Main Authors: Matheus de Mello Copelli, Eleonore Pairet, Milena Atique-Tacla, Társis Paiva Vieira, Simone Appenzeller, Raphaël Helaers, Miikka Vikkula, Vera Lúcia Gil-da-Silva-Lopes
Format: Article
Language:English
Published: MDPI AG 2023-04-01
Series:Genes
Subjects:
natural history
whole-exome sequencing
cleft palate
behavior problems
osteopenia
<i>SATB2</i>
Online Access:https://www.mdpi.com/2073-4425/14/4/882

Internet

https://www.mdpi.com/2073-4425/14/4/882

Similar Items