Rubinstein-Taybi Syndrome - an overview

Forgotten Diseases Research Foundation

OMIM diseases as a function of associated HPO phenotypes. Data include

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

IJMS, Free Full-Text

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

Mosaic CREBBP mutation causes overlapping clinical features of

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

Rubinstein–Taybi syndrome: clinical and molecular overview

Expanding the phenotype associated to KMT2A variants: overlapping