Novel heterozygous variants in the EP300 gene cause Rubinstein–Taybi syndrome 2: Reports from two Chinese children
Abstract Background Rubinstein–Taybi syndrome (RSTS) is a rare autosomal‐dominant genetic disease caused by variants of CREBBP (RSTS1) or EP300 (RSTS2) gene. RSTS2 is much less common, with less than 200 reported cases worldwide to date. More reports are still needed to increase the understanding of...
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| Główni autorzy: | , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Wiley
2023-09-01
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| Seria: | Molecular Genetics & Genomic Medicine |
| Hasła przedmiotowe: | |
| Dostęp online: | https://doi.org/10.1002/mgg3.2192 |
| Etykiety: |
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