Case report
Open access
Oct 2026
A Novel BORCS5 Loss-Of-Function Variant in a Patient With a Rare Neurodevelopmental Disorder.
BACKGROUND The BORCS5 is an important and critical component of the BLOC-one-related complex (BORC), involved in kinesin-dependent anterograde lysosomal transport. Aberrations in the octameric protein complex encompass lethal neurological manifestations, such as arthrogryposis multiplex congenita, brain malformations a...
Arif Mahmood, A. Shah, Gohar Zaman et al.
· International Journal of Dev... · 0 citations