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

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Title: A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum.
Authors: Dursun E; Acibadem University, School of Medicine, Istanbul, Turkey., Uctepe E; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey., Guler S; Department of Pediatric Neurology, Istanbul University-Cerrahpaşa, Istanbul, Turkey., Mancilar H; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey., Yesilyurt A; Acibadem Maslak Hospital, Department of Medical Genetics, Istanbul, Turkey.
Source: Molecular syndromology [Mol Syndromol] 2026 Apr; Vol. 17 (2), pp. 169-173. Date of Electronic Publication: 2025 Aug 21.
Publication Type: Journal Article
Journal Info: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Availability: 0
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PubType: Academic Journal
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  Data: A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum.
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  Data: <searchLink fieldCode="AU" term="%22Dursun+E%22">Dursun E</searchLink>; Acibadem University, School of Medicine, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Uctepe+E%22">Uctepe E</searchLink>; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Guler+S%22">Guler S</searchLink>; Department of Pediatric Neurology, Istanbul University-Cerrahpaşa, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Mancilar+H%22">Mancilar H</searchLink>; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Yesilyurt+A%22">Yesilyurt A</searchLink>; Acibadem Maslak Hospital, Department of Medical Genetics, Istanbul, Turkey.
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  Data: <searchLink fieldCode="JN" term="%22101525192%22">Molecular syndromology</searchLink> [Mol Syndromol] 2026 Apr; Vol. 17 (2), pp. 169-173. <i>Date of Electronic Publication: </i>2025 Aug 21.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22S%2E+Karger%22">S. Karger </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101525192 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>1661-8769 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216618769%22">16618769 </searchLink><i>NLM ISO Abbreviation: </i>Mol Syndromol <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41064057
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        Value: 10.1159/000547120
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      – Code: eng
        Text: English
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        StartPage: 169
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      – TitleFull: A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum.
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              M: 04
              Text: 2026 Apr
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              Y: 2026
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            – TitleFull: Molecular syndromology
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