Tissue-specific mosaicism in a patient with Rubinstein–Taybi syndrome and CREBBP exon 1 duplication
| Autor: | Oliver Bartsch, Nevenka Laban, Aleksandar Saveski, Zoran Gucev, Velibor B. Tasic, Momir Polenakovic, Ulrich Zechner |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Rubinstein-Taybi Syndrome
Genetics Rubinstein–Taybi syndrome Mosaicism business.industry Facies Exons General Medicine medicine.disease CREB-Binding Protein Pathology and Forensic Medicine Exon Organ Specificity Gene Duplication Pediatrics Perinatology and Child Health Gene duplication medicine Humans Tissue specific Female Anatomy Child business E1A-Associated p300 Protein Genetics (clinical) |
| Zdroj: | Clinical Dysmorphology. 28:140-142 |
| ISSN: | 0962-8827 |
| DOI: | 10.1097/mcd.0000000000000268 |
| Databáze: | OpenAIRE |
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