A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene
Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a wide spectrum of multiple congenital anomalies and cognitive impairment. RSTS is primarily due to mutations in CREBBP (approximately 55% of cases) or EP300 (approximately 8% of cases) genes. A 2 month-old boy had...
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| Principais autores: | , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Hacettepe University Institute of Child Health
2017-10-01
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| Serier: | The Turkish Journal of Pediatrics |
| Fag: | |
| Online adgang: | https://turkjpediatr.org/article/view/1039 |
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