RTS National Conference 2023 – UCCEDD

Ocular features in Rubinstein-Taybi syndrome: investigation of 24

Genes, Free Full-Text

Frontiers Case report: A preterm infant with rubinstein-taybi

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

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

Rubinstein-Taybi Syndrome by Alexandra Wilegus

Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

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

High frequency of copy number imbalances in Rubinstein–Taybi