Seven patients with Smith-McCort Dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings.
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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
Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2021-108098
Abstract: Background Dyggve-Melchior-Clausen dysplasia (DMC) and Smith-McCort dysplasia (SMC types 1 and 2) are rare spondyloepimetaphyseal dysplasias with identical radiological findings. The presence of intellectual disability in DMC and normal intellect in SMC differentiates the two.… read more here.
Keywords: smith mccort; dyggve melchior; dysplasia; clausen dysplasia ... See more keywords