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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis | European Journal of Human Genetics
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes | European Journal of Human Genetics
List of skin conditions - Wikiwand
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP | Journal of Medical Genetics
Rubinstein-Taybi Syndrome: What therapies does Maria need?
Pitt–Hopkins syndrome - Wikiwand
Pediatric Orthopedics for Primary Healthcare
Cockayne Syndrome: Most Up-to-Date Encyclopedia, News & Reviews
Robinow Syndrome: Most Up-to-Date Encyclopedia, News & Reviews
What is Rubens syndrome? - Quora
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations | Journal of Medical Genetics