Article
Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype.
American journal of medical genetics. Part A - 1 Jul 2022
Saettini Francesco, Fazio Grazia, Bonati Maria Teresa, Moratto Daniele, Massa Valentina, Di Fede Elisabetta, Castiglioni Silvia, Marchetti Daniela, Chiarini Marco, Sottini Alessandra, Iascone Maria, Cazzaniga Giovanni, Imberti Luisa, Biondi Andrea, Gervasini Cristina, Badolato Raffaele
Abstract excerpt
The Rubinstein-Taybi syndrome (RSTS) is a rare developmental disorder characterized by craniofacial dysmorphisms, broad thumbs and toes, intellectual disability, growth deficiency, and recurrent infections. Mutations in the cyclic adenosine monophosphate response element-binding protein (CREB)-binding protein (CREBBP) or in the E1A-associated protein p300 (EP300) genes have been demonstrated in 55% (RSTS1) and up...
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