A study from two centers in the UAE explores the phenotypic spectrum and quality of life in pediatric patients with Bruck syndrome linked to FKBP10 and PLOD2 gene variants. This research contributes to understanding the clinical presentation and patient experiences associated with this rare condition.
phenotypic spectrum and quality of life in pediatric bruck syndrome due to fkbp10 and plod2 variants a 2 center united arab emirates experience
Original title: “Phenotypic spectrum and quality of life in pediatric Bruck syndrome due to FKBP10 and PLOD2 variants: a 2-center United Arab Emirates experience.”