A novel variant of the IFITM5 gene within the 5 ′‐UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum

ConclusionThis study identified a novel pathogenic variant ofIFITM5, which not only manifested the molecular characteristics ofIFITM5, but also provided new evidence for the study of the molecular mechanisms of IFITM5 association with OI.

https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.1287?af=R

Source: Molecular Genetics & Genomic Medicine - May 7, 2020 Category: Genetics & Stem Cells Authors: Dong Wu, Yuxin Wang, Huijuan Huang Tags: ORIGINAL ARTICLE Source Type: research