Rubinstein-Taybi syndrome with agenesis of corpus callosum

Rubinstein-Taybi Syndrome

Rubinstein-Taybi Syndrome 1

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

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

Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7

genereviews.org - GeneReviews® - NCBI Bookshelf

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‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library