Article
Dermatological findings in Rubinstein-Taybi Syndrome.
Italian journal of dermatology and venereology - 1 Aug 2023
Cammarata-Scalisi Francisco, Diociaiuti Andrea, Cárdenas Tadich Antonio, Sandoval Ximena, Oranges Teresa, Filippeschi Cesare, Araya Castillo Maykol, Willoughby Colin E, Cerri Amilcare, Gervasini Cristina, Callea Michele
Abstract excerpt
Rubinstein-Taybi Syndrome is a rare congenital multisystem syndrome inherited in an autosomal dominant pattern caused by mutations in CREBBP and EP300 genes in approximately 60% and 10% respectively. These genes encode two highly evolutionarily conserved, ubiquitously expressed, and homologous lysine-acetyltransferases, that are involved in number of basic cellular activities, such as DNA repair, cell...
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