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 20 novembro 2024
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 Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
IJMS, Free Full-Text
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
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
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
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
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
IJMS, Free Full-Text
First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene
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