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Case Report

Published on 18 Nov 2022

Case Report: Precision genetic diagnosis in a case of Dyggve-Melchior-Clausen syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications

in Genetics of Common and Rare Diseases

  • MarĂ­a-Pilar LĂłpez-Garrido
  • MarĂ­a-Carmen Carrascosa-Romero
  • Minerva Montero-Hernández
  • Caridad-MarĂ­a Serrano-MartĂ­nez
  • Francisco Sánchez-Sánchez
Case Report: Precision genetic diagnosis in a case of Dyggve-Melchior-Clausen syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications
Frontiers in Genetics
doi 10.3389/fgene.2022.1005573
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  • 2 citations