A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum

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dc.contributor.authorDursun, Enes
dc.contributor.authorUctepe, Eyyup
dc.contributor.authorGuler, Serhat
dc.contributor.authorMancilar, Hanifenur
dc.contributor.authorYesilyurt, Ahmet
dc.date.accessioned2025-10-16T15:11:34Z
dc.date.issued2025
dc.identifier.doi10.1159/000547120
dc.identifier.otherWOS:001559058600001
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/4798
dc.publisherKARGER
dc.sourceMOLECULAR SYNDROMOLOGY
dc.subjectRubinstein\\-Taybi syndrome
dc.subjectCREBBP
dc.subjectIntragenic duplication
dc.subjectCopy number variation
dc.subjectGenotype\\-phenotype correlation
dc.titleA Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum
dc.typeArticle; Early Access

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