First case of Rubinstein–Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene - Wang - 2019 - Clinical and Experimental Dermatology - Wiley Online Library
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Last updated 01 abril 2025


First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene

PDF) 'Going into the unknown': Experiences of male patients in secure settings during environmental transition

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

PDF) 'Going into the unknown': Experiences of male patients in secure settings during environmental transition

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

IJMS, Free Full-Text

PDF) 'Going into the unknown': Experiences of male patients in secure settings during environmental transition

First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene

PDF) 'Going into the unknown': Experiences of male patients in secure settings during environmental transition

Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC

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

Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
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