Rubinstein Taybi syndrome caused by EP300 gene mutation: what we learned from two cases and literature review
IntroductionRubinstein-Taybi syndrome is an extremely rare autosomal dominant genetic disease. The incidence of RSTS ranges from 1/100 000 to 125 000.MethodsWe retrospectively reviewed the phenotype and genotype of two children who were diagnosed with RSTS in Hunan Province Children’s Hospital from...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-07-01
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| Series: | Frontiers in Genetics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1588657/full |
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