Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

por Naud, Marie-Emmanuelle, Tosca, Lucie, Martinovic, Jelena, Saada, Julien, Métay, Corinne, Drévillon, Loïc, Benoit, Virginie, Brisset, Sophie, Tachdjian, Gérard
Publicado 2017

Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C

por Tosca, Lucie, Drévillon, Loïc, Mouka, Aurélie, Lecerf, Laure, Briand, Audrey, Ortonne, Valérie, Benoit, Virginie, Brisset, Sophie, Van Maldergem, Lionel, Laudouar, Quitterie, Heide, Solveig, Goossens, Michel, Giurgea, Irina, Tachdjian, Gérard, Métay, Corinne
Publicado 2021