High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Por um escritor misterioso
Last updated 12 abril 2025


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

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

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

IJMS, Free Full-Text

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

Genes, Free Full-Text

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

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes

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

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

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

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

PDF) New dysmorphic features in Rubinstein-Taybi syndrome

PDF) New mutation of Rubinstein-Taybi Syndrome
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