RTS National Conference 2023 – UCCEDD

First case report of inherited Rubinstein-Taybi syndrome

Pediatric on Squares on X: Rubinstein Taybi Syndrome #Pediatric

What to Expect Rubinstein-Taybi Syndrome

A case with Rubinstein-Taybi syndrome: A novel frameshift mutation

a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the

Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP

4 Newborn with Rubinstein-Taybi syndrome showing microcephaly

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

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

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