High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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Last updated 28 março 2025


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PDF) New mutation of Rubinstein-Taybi Syndrome

The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine

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

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics

The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

Individual functions of the histone acetyl transferases CBP and p300 in regulating the inflammatory response of synovial fibroblasts - ScienceDirect

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine

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