De novo and inherited pathogenic variants in collagen ‐related osteogenesis imperfecta

ConclusionIn summary, there were significant differences between the phenotypes and genotypes of subjects withde novo and inherited OI. These findings may promote the further understanding of OI etiology, and assist with diagnostics procedures, as well as with family planning.

Source: Molecular Genetics & Genomic Medicine - January 24, 2019 Category: Genetics & Stem Cells Authors: Lidiia Zhytnik, Katre Maasalu, Binh Ho Duy, Andrey Pashenko, Sergey Khmyzov, Ene Reimann, Ele Prans, Sulev K õks, Aare Märtson Tags: ORIGINAL ARTICLE Source Type: research