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

Introduction. Patients affected with Allan-Herndon-Dudley syndrome (AHDS) have a deficiency of monocarboxylate transporter 8 (MCT8), a protein primarily responsible for the transport of triiodothyronine (T3) into the brain. This X-linked disorder affects almost exclusively males with clinical presentation encompassing developmental delay, axial hyp...

By Adrijan Sarajlija, Slađana Todorović, Biljana Alimpić, Maja Čehić