Cargando…

SUN-LB19 Novel Homozygous Mutation in BMP1 Causing Osteogenesis Imperfecta

Background: Osteogenesis imperfecta (OI) is characterized by bone fragility and increased fracture susceptibility. Most mutations occur in COL1A1 and COL1A2 genes. Rarely, mutations in BMP1 have been reported in association with OI type XIII. Disease severity is generally more severe when the mutati...

Descripción completa

Detalles Bibliográficos
Autores principales: Choksi, Ishani, Carpenter, Thomas O, Robinson, Cemre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209160/
http://dx.doi.org/10.1210/jendso/bvaa046.2020