Rubinstein - Taybi syndrome: phenotypic characteristics

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library

Microdeletions and mutations of CREBBP (CBP) gene can cause

DBMCI MDS : Formerly MDS Experts - RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated with deletions of the short arm of ch 16. Clinical Features: - Mental retardation - Broad thumbs

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

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

Characteristic facial appearance with downward slant of palpebral

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

Figure 1 from Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Monozygotic Twins Concordant for Rubinstein-Taybi Syndrome.

Rubinstein Taybi Syndrome - MEDizzy

Rubinstein-Taybi Syndrome

Psychiatric Profile in Rubinstein-Taybi Syndrome

Rubinstein-Taybi Syndrome: A case report

Rubinstein-Taybi Syndrome: A Complete Overview — DermNet

Clinical photos of the patients. (a) Case 1: Dysmorphic facial features