Introduction. Mutations in TMEM38B gene, which encodes the endoplasmatic reticulum membrane trimeric intracellular cation channel (TRIC) type B, cause osteogenesis imperfecta type XIV. So far there have been only four different pathogenic variants reported in TMEM38B. Clinical features of osteogenesis imperfecta type XIV described in scarce reports...

By Nikola Georgijev, Slobodan Gazikalović, Zoran Paunović, Nikola Ilić, Adrijan Sarajlija