María-Pilar López-Garrido María-Carmen Carrascosa-Romero Minerva Montero-Hernández Caridad-María Serrano-Martínez Francisco Sánchez-Sánchez
10.3389/fgene.2022.1005573
Front Genet
2022 Nov 18;13:1005573.
dmc syndrome dym gene mutation eloa3 tceb3c upd chromosome 18 diagnostic odyssey imprinting chromosome 18 precision medicine
CC BY
https://pubmed.ncbi.nlm.nih.gov/36468000/
Case Reports
PMC9716064
36468000
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
2022