Rubinstein–Taybi syndrome European Journal of Human Genetics

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open

Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers - Wieczorek - 2009 - American Journal of Medical Genetics Part A

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder

Subclass IgG levels of patients with Rubinstein-Taybi syndrome compared

Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? - Wójcik - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library

Frontiers BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

Rubinstein‐Taybi syndrome in Chinese population with four novel

Expanding the phenotype associated to KMT2A variants: overlapping