Jun 2026
GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.
Evidence is provided that biallelic GIT1 variants affecting transcript processing or causing premature termination underlie a syndromic neurodevelopmental disorder and an essential role for GIT1 in development and cognitive function is established.
P. Failla, V. Muto, Antonella Lauri et al.
· Brain : a journal of neurolo... · 0 citations