Article
The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Jul 2020
Fernandes A M, Rocha-Braz M G M, França M M, Lerario A M, Simões V R F, Zanardo E A, Kulikowski L D, Martin R M, Mendonca B B, Ferraz-de-Souza B
Abstract excerpt
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. INTRODUCTION: Defects in type 1 collagen reportedly account for 85-90% of osteogenesis imperfecta (OI)...
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