A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum.
Saved in:
| 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 |
| ISSN: | 1661-8769 |
|---|---|
| DOI: | 10.1159/000547120 |
