Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2021-107942
Abstract: Background Secreted protein, acidic, cysteine rich (SPARC)-related osteogenesis imperfecta (OI), also referred to as OI type XVII, was first described in 2015, since then there has been only one further report of this form of… read more here.
Keywords: sparc; two patients; related osteogenesis; osteogenesis imperfecta ... See more keywords