Publications by authors named "Mohamed Ksentini"
A novel TBX1 missense mutation in patients with syndromic congenital heart defects.
Biochem Biophys Res Commun
May 2018
Article Synopsis
- * In a study of 27 patients with congenital heart defects, researchers used karyotype analysis and FISH, discovering a de novo 22q11.2 deletion in two patients and a novel TBX1 mutation (c.569C > A) in six patients.
- * The novel mutation could negatively affect the TBX1 protein's function and stability and was absent in 50 healthy controls, suggesting it may play a harmful role linked to the 22q11.2 deletion syndrome phenotype