Case report
Aug 2026
TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing
Tetratricopeptide Repeat Domain 14 plays a crucial role in RNA metabolism during neurodevelopment, and that the p.His30Arg variant impairs its function, possibly leading to a neurodevelopmental disorder within the lissencephaly spectrum.
S. R. Ahmad, M. Zeyaullah, Mohammad Suhail Khan et al.
· Human Genetics · 0 citations