Article
Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.
Clinical genetics - 1 Mar 2025
Pavinato Lisa, Carestiato Silvia, Trajkova Slavica, Sorasio Lorena, Mantovani Giovanna, De Sanctis Luisa, Kerkhof Jennifer, McConkey Haley, Rzasa Jessica, Todd Emily, Balzo Maria, Cardaropoli Simona, Bruselles Alessandro, De Rubeis Silvia, Buxbaum Joseph D, Tartaglia Marco, Sadikovic Bekim, Ferrero Giovanni Battista, Brusco Alfredo
Abstract excerpt
Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder linked to haploinsufficiency of CREBBP (RSTS1) and EP300 (RSTS2) genes. Characteristic features often include distinctive facial traits, broad thumbs and toes, short stature, and various degrees of intellectual disability. The clinical presentation of RSTS is notably variable, making it challenging to establish a clear...
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