The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience

Douzgou, S; Dell'Oro, J; Fonseca, CR; Rei, A; Mullins, J; Jusiewicz, I; Huisman, S; Simpson, BN; Vyshka, K; Milani, D; Bartsch, O; Lacombe, D; Garcia-Minaur, S; Hennekam, RCM

Douzgou, S (通讯作者)，Haukeland Hosp, Dept Med Genet, Bergen, Norway.;Douzgou, S (通讯作者)，Univ Manchester, Sch Biol Sci, Div Infect Evolut & Genom Sci, Manchester, Lancs, England.

EUROPEAN JOURNAL OF HUMAN GENETICS, 2022; 30 (7): 841

Abstract

The existing knowledge about morbidity in adults with Rubinstein-Taybi syndrome (RTS) is limited and detailed data on their natural history and respon......

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