RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated
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Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
Genes, Free Full-Text
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Rubinstein–Taybi syndrome - Wikipedia
Forgotten Diseases Research Foundation
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Forgotten Diseases Research Foundation
Genes, Free Full-Text
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
PDF] Patent Ductus Arteriousus Device Closure in an Infant with Rubinstein–Taybi Syndrome
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
JCDR - Rubinstein-Taybi syndrome, Clinodactyly, Talon cusps
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
Rubinstein - Taybi Syndrome (Rubinstein syndrome, broad thumb-hallux syndrome, broad thumbs and great toes, characteristic facies and mental retardation) - Dermatology Advisor
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