Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Por um escritor misterioso
Last updated 22 março 2025


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

An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly

PDF) Rubinstein-Taybi syndrome: A case report

Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect

Rubinstein–Taybi syndrome European Journal of Human Genetics

An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

Rubinstein–Taybi syndrome European Journal of Human Genetics

PDF) Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature

Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
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