Lacombe, Didier; Bloch-Zupan, Agnès; Bredrup, Cecilie; Cooper, Edward B.; Houge, Sofia Douzgou; García-Miñaúr, Sixto; Kayserili, Hülya; Larizza, Lidia; Lopez Gonzalez, Vanesa; Menke, Leonie A.; Milani, Donatella; Saettini, Francesco; Stevens, Cathy A.; Tooke, Lloyd; Van Der Zee, Jill A.; Van Genderen, Maria M.; Van-Gils, Julien; Waite, Jane; Adrien, Jean Louis; Bartsch, Oliver; Bitoun, Pierre; Bouts, Antonia H.M.; Cueto-González, Anna M.; Dominguez-Garrido, Elena; Duijkers, Floor A.; Fergelot, Patricia; Halstead, Elizabeth; Huisman, Sylvia A.; Meossi, Camilla; Mullins, Jo; Nikkel, Sarah M.; Oliver, Chris; Prada, Elisabetta; Rei, Alessandra; Riddle, Ilka; Rodriguez-Fonseca, Cristina; Rodríguez Pena, Rebecca; Russell, Janet; Saba, Alicia; Santos-Simarro, Fernando; Simpson, Brittany N.; Smith, David F.; Stevens, Markus F.; Szakszon, Katalin; Taupiac, Emmanuelle; Totaro, Nadia; Valenzuena Palafoll, Irene; Van Der Kaay, Daniëlle C.M.; Van Wijk, Michiel P.; Vyshka, Klea; Wiley, Susan; Hennekam, Raoul C.
(BMJ Publishing Group, 2024-06-01)
Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and ...