Seven patients with Smith-McCort Dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104248
Abstract: Smith-McCort dysplasia 2 (SMC2) is a rare spondylo-epiphyseal-metaphyseal dysplasia caused by biallelic RAB33B variants. Short trunk dwarfism and radiological findings including the lacy ilia appearance and double bumps of the vertebral bodies are typical features.… read more here.
Keywords: follow findings; mccort dysplasia; four novel; smith mccort ... See more keywords
Follow-up Findings of Non-infectious Pediatric Uveitis Patients
Sign Up to like & getrecommendations! Published in 2021 at "Turkish Journal of Ophthalmology"
DOI: 10.4274/tjo.galenos.2021.38585
Abstract: Objectives: In this study, we aimed to describe the demographic and clinical findings of children with uveitis at a tertiary pediatric rheumatology and ophthalmology center. Materials and Methods: A retrospective cross-sectional study was conducted with… read more here.
Keywords: pediatric uveitis; ophthalmology; findings non; treatment ... See more keywords