The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort

Published: Mar 2, 2020
Abstract
We have sought the molecular diagnosis of OI in 38 Brazilian cases through targeted sequencing of 15 candidate genes. While 71% had type 1 collagen-related OI, defects in FKBP10, PLOD2 and SERPINF1, and a potential digenic P3H1/WNT1 interaction were prominent causes of OI in this underrepresented population. Defects in type 1 collagen reportedly account for 85–90% of osteogenesis imperfecta (OI) cases, but most available molecular data has...
Paper Details
Title
The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort
Published Date
Mar 2, 2020
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