Molecular insight into CREBBP and TANGO2 variants causing intellectual disability.

Syeda Iqra HussainNazif MuhammadNiamatullah KhanMobeen KhanFardous FardousRaheel TahirMuhammad YasinSher Alam KhanShamim SalehaNoor MuhammadNaveed WasifSaadullah Khan

Published in: The journal of gene medicine (2023)

RSTS and TRMEA are exceedingly rare disorders for which specific clinical characteristics have been clearly established, but more investigations are underway and required. Multicenter studies are needed to increase our understanding of the clinical phenotypes, mainly showing the genotype-phenotype associations.

Keyphrases

intellectual disability
autism spectrum disorder
copy number
cross sectional
case control
gene expression
clinical trial