Article
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
Human mutation - 1 Feb 2016
Negri Gloria, Magini Pamela, Milani Donatella, Colapietro Patrizia, Rusconi Daniela, Scarano Emanuela, Bonati Maria Teresa, Priolo Manuela, Crippa Milena, Mazzanti Laura, Wischmeijer Anita, Tamburrino Federica, Pippucci Tommaso, Finelli Palma, Larizza Lidia, Gervasini Cristina
Abstract excerpt
Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder characterized by growth deficiency, skeletal abnormalities, dysmorphic features, and intellectual disability. Causative mutations in CREBBP and EP300 genes have been identified in ∼55% and ∼8% of affected individuals. To date, only 28 EP300 alterations in 29 RSTS clinically described patients have been reported. EP300 analysis of 22...
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