Silver Russell Syndrome: Most Up-to-Date Encyclopedia, News & Reviews

Rubinstein–Taybi syndrome - Wikipedia

Rubinstein-Taybi Syndrome

Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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

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

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

PDF) Rubinstein-Taybi syndrome in diverse populations

Expanding the phenotype associated to KMT2A variants: overlapping

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