RTS National Conference 2023 – UCCEDD

What Is Rubinstein-Taybi Syndrome? - StoryMD

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

Key Facts

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

DBMCI MDS : Formerly MDS Experts - RUBINSTEIN TAYBI SYNDROME An

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

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

Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library