Expanding the phenotype associated to KMT2A variants: overlapping

Figure 2. [Broad terminal phalanges (A) and broad, radially deviated thumbs (B)]. - GeneReviews® - NCBI Bookshelf

A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome

The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients - ScienceDirect

Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf

Floating-Harbor syndrome: MedlinePlus Genetics

Rubinstein–Taybi syndrome in diverse populations - Tekendo

Identification of de novo EP300 and PLAU variants in a patient