Showing results 1 to 4 of 4
|A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V
|Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
|Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.
|Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.