Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum
Abstract Background Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50-60% and 8%, respectively. Up to now, 76 RSTS-EP300 patients have been described. We...
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| Main Authors: | , , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2018-03-01T00:00:00Z.
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