Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
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CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
JCI - Administration of BMP2/7 in utero partially reverses Rubinstein-Taybi syndrome–like skeletal defects induced by Pdk1 or Cbp mutations in mice
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Rubinstein-Taybi Syndrome
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
CBP/EP300 acetylates and stabilizes the stress-responsive Heat Shock Factor 2, a process compromised in Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
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