Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical

In 1963, Rubinstein and Taybi first described Rubinstein-Taybi syndrome (RSTS) (Mendelian Inheritance in Man [MIM] #180849). Rubinstein-Taybi syndrome is a well-delineated malformation syndrome characterized by facial abnormalities, broad thumbs, broad great toes, short stature, and mental retardation.

Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

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

JCDR - Rubinstein Taybi Syndrome, Oro-facio-dental findings

Facial features of Rubinstein-Taybi syndrome

Rubinstein-Taybi Syndrome: A Rare Case Report

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics

Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical Presentation: History, Physical Examination, Complications

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

IJMS, Free Full-Text

Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology

Typcial facial features and broad thumbs of the patient. A) Note his