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

A M FernandesM G M Rocha-BrazM M FrançaA M LerarioV R F SimõesE A ZanardoL D KulikowskiR M MartinB B MendoncaBruno Ferraz-de-Souza

Published in: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA (2020)

Novel disease-causing variants were identified in 29%, and a higher proportion of non-collagen defects was seen. Obtaining a precise diagnosis of OI in underrepresented populations allows expanding our understanding of its molecular landscape, potentially leading to improved personalized care in the future.

Keyphrases

healthcare
single cell
mental health
palliative care
copy number
quality improvement
current status
wound healing