First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open

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PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein- Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF

Rubinstein-Taybi syndrome - wikidoc

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

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

New insights into genetic variant spectrum and genotype–phenotype