The Rubinstein-Taybi syndrome: a report of two cases.
Por um escritor misterioso
Last updated 15 abril 2025


Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics

Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Infantile Spasms in Two Brothers with Broad Thumbs Syndrome - Chang Y. Tsao, Robert J. Ellingson, 1990

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

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 associated with breast cancer — a case report

Rubinstein-Taybi syndrome associated with breast cancer — a case report

Rubinstein - Taybi Syndrome (Rubinstein syndrome, broad thumb-hallux syndrome, broad thumbs and great toes, characteristic facies and mental retardation) - Dermatology Advisor

Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case in: Journal of Neurosurgery: Case Lessons Volume 1 Issue 11 (2021) Journals

PDF] Rubinstein-Taybi Syndrome: A Case Report

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

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH

Psychiatric Profile in Rubinstein-Taybi Syndrome
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