A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature
Loic Couloigner, Marc Planes,Chandran Ka,Severine Audebert-Bellanger,Sylvia Redon,Caroline Benech,Karen Rouault,Sebastien Kury,Sylviane Peudenier, Sandrine Autret,Isabelle Gourlaouen,Dominique Bonneau,Sylvie Odent,Stephane Bezieau,Brigitte Gilbert-Dussardier,Annick Toutain,Anne Boland,Jean-Francois Deleuze,Cedric Le Marechal,Gerald Le Gac,Claude Ferec,Kevin Uguen CLINICAL GENETICS(2022)
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Kaufman Oculocerebrofacial syndrome,UBE3B,splicing assay
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