Associated Papers
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Fergelot P et al.
American Journal of Medical Genetics. Part A, 2016
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
Negri G et al.
Human Mutation, 2016
Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.
Woods SA et al.
American Journal of Medical Genetics. Part A, 2014
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.
Bartsch O et al.
American Journal of Medical Genetics. Part A, 2010
Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.
Zimmermann N et al.
European Journal of Human Genetics : Ejhg, 2007
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