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Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. Among authors: rodriguez fonseca c. J Med Genet. 2024 May 14:jmg-2023-109438. doi: 10.1136/jmg-2023-109438. Online ahead of print. J Med Genet. 2024. PMID: 38471765 Free article. Review.
Growth charts for individuals with Rubinstein-Taybi syndrome.
Beets L, Rodríguez-Fonseca C, Hennekam RC. Beets L, et al. Among authors: rodriguez fonseca c. Am J Med Genet A. 2014 Sep;164A(9):2300-9. doi: 10.1002/ajmg.a.36654. Epub 2014 Jul 2. Am J Med Genet A. 2014. PMID: 24989455
Rubinstein-Taybi Syndrome: Presentation in the First Month of Life.
Levetan C, Van Gils J, Saba A, Rodríguez-Fonseca C, Fieggen K, Tooke L. Levetan C, et al. Among authors: rodriguez fonseca c. J Pediatr. 2022 Oct;249:106-110. doi: 10.1016/j.jpeds.2022.06.038. Epub 2022 Jul 5. J Pediatr. 2022. PMID: 35803299