Sarah Ehtisham

Phenotypic spectrum and quality of life in pediatric Bruck syndrome due to FKBP10 and PLOD2 variants: a 2-center United Arab Emirates experience.

Bruck syndrome is a rare autosomal recessive form of OI caused by biallelic variants in FKBP10 or PLOD2, and characterized by fragility fractures with congenital or progressive joint contractures. We describe 13 patients from 2 tertiary pediatric centers in the United Arab Emirat...