Glob Med Genet 2022 Jun 17;9(2):175-178. Epub 2021 Dec 17.
Collage of Medicine, King Saud bin Abdul-Aziz University for Health Sciences, Riyadh, Saudi Arabia.
Geroderma osteodysplasticum (GO; MIM 231070) is characterized by a typical progeroid facial appearance, wrinkled, lax skin, joint laxity, skeletal abnormalities with variable degree of osteopenia, frequent fractures, scoliosis, bowed long bones, vertebral collapse, and hyperextensible fingers. The disorder results from mutations in the GORAB-golgin, RAB6 interacting. This gene encodes a member of the golgin family, a group of coiled-coil proteins on golgin that maps to chromosome 1q24. Read More