Rubinstein–Taybi syndrome - Wikipedia

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

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

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

PDF) Rubinstein-Taybi syndrome in diverse populations

NRF1 Association with AUTS2-Polycomb Mediates Specific Gene Activation in the Brain

What is CdLS? Ben and his Brothers: Life with 4 boys and CdLS

Rubinstein–Taybi syndrome in diverse populations - Tekendo