Rubinstein - Taybi syndrome: phenotypic characteristics

Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect

Rubinstein Taybi Syndrome - MEDizzy

Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect. - Abstract - Europe PMC

PDF) Oro-dental features as useful diagnostic tool in Rubinstein–Taybi syndrome

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

IJMS, Free Full-Text

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

Genes, Free Full-Text

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

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

Characteristic facial appearance with downward slant of palpebral

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant

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

A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.