A NovelRAB33BMutation in Smith-McCort Dysplasia

Volume: 34, Issue: 2, Pages: 283 - 286
Published: Nov 8, 2012
Abstract
Smith–McCort dysplasia (SMC) is a rare autosomal recessive spondylo-epi-metaphyseal dysplasia with skeletal features identical to those of Dyggve–Melchior–Clausen syndrome (DMC) but with normal intelligence and no microcephaly. Although both syndromes were shown to result from mutations in the DYM gene, which encodes the Golgi protein DYMECLIN, a few SMC patients remained negative in DYM mutation screening. Recently, autozygosity mapping and...
Paper Details
Title
A NovelRAB33BMutation in Smith-McCort Dysplasia
Published Date
Nov 8, 2012
Volume
34
Issue
2
Pages
283 - 286
Citation AnalysisPro
  • Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
  • Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.