Expanding the phenotype associated to KMT2A variants: overlapping

Rubinstein-Taybi Syndrome: A Complete Overview — DermNet

Figure 1. [Facial appearance of a girl age 11 years with FHS (SRCAP pathogenic variant p.Arg2444Ter)]. - GeneReviews® - NCBI Bookshelf

Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature

PDF) Rubinstein-Taybi syndrome: Dental manifestations and management

genereviews.org - GeneReviews® - NCBI Bookshelf

Full article: Psychomotor, cognitive, and socio-emotional developmental profiles of children with Rubinstein-Taybi Syndrome and a severe intellectual disability

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly