A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature. Issue 3 (1st December 2022)

• Record Type: Journal Article
• Authors: Couloigner, Loïc; Planes, Marc; Ka, Chandran; Audebert‐Bellanger, Séverine; Redon, Sylvia; Benech, Caroline; Rouault, Karen; Küry, Sebastien; Peudenier, Sylviane; Autret, Sandrine; Gourlaouen, Isabelle; Bonneau, Dominique; Odent, Sylvie; Bézieau, Stéphane; Gilbert‐Dussardier, Brigitte; Toutain, Annick; Boland, Anne; Deleuze, Jean‐François; Le Marechal, Cédric; Le Gac, Gérald; Ferec, Claude; Uguen, Kevin
• Is Part Of: Clinical genetics. Volume 103:Issue 3(2023)
• Page Start: 377
• Page End: 379
• Publication Date: 2022-12-01
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.14270
• Languages: English
• ISSNs: 0009-9163

Abstract

Abstract : XXX