Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™

Rubinstein–Taybi syndrome - Wikipedia

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

Clinical and molecular findings of the six patients with Rubinstein

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

Microdeletions and mutations of CREBBP (CBP) gene can cause

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein- Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF

Main clinical findings of the 16 Brazilian patients with

Expanding the phenotype associated to KMT2A variants: overlapping

Rubinstein-Taybi syndrome: clinical features, genetic basis

Growth charts for individuals with Rubinstein–Taybi syndrome