Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™

Exon deletions of the EP300 and CREBBP genes in two children with

Facial features of Rubinstein-Taybi syndrome

Congenital glaucoma as a presenting feature of Rubinstein-Taybi

IJMS, Free Full-Text

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy

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CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 - Molecular Genetics & Genomic Medicine - Wiley Online Library

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics

Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC

Expanding the phenotype associated to KMT2A variants: overlapping