Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India
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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