A novel variant of the IFITM5 gene within the 5'-UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum.,Molecular Genetics & Genomic Medicine

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A novel variant of the IFITM5 gene within the 5'-UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-05-08 , DOI: 10.1002/mgg3.1287
Dong Wu ₁ , Yuxin Wang ₂ , Huijuan Huang ₁

Affiliation

Osteogenesis imperfecta (OI) type V is a rare heritable bone disorder caused by pathogenic variants of IFITM5 . Only two mutated alleles in IFITM5 have been identified worldwide, the role of which in OI pathology is not fully understood.

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