Article
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Journal of medical genetics - 21 May 2024
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
Abstract excerpt
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 symptoms. It is caused by variants in either of two genes (CREBBP, EP300) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone...
Read the complete abstract on PubMed