Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants
Beyhan Tüysüz, Leyla Elkanova, Dilek Uludağ Alkaya, Çağrı Güleç, Güven Toksoy, Nilay Güneş, Hakan Yazan, Asuman Bayhan, Timur Yıldırım, Gözde Yeşil, Zehra Oya Uyguner
Topics & Concepts
Osteogenesis imperfectaCompound heterozygositySanger sequencingPhenotypeGeneticsMedicineExome sequencingGenotypeGeneMutationInternal medicineGastroenterologyBiologyPathologyConnective tissue disorders researchCell Adhesion Molecules ResearchBone and Dental Protein Studies