High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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Last updated 26 novembro 2024
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
Individual functions of the histone acetyl transferases CBP and p300 in regulating the inflammatory response of synovial fibroblasts - ScienceDirect
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
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
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Genes, Free Full-Text
Otopalatodigital Syndrome, Type Ii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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