Rubinstein-Taybi syndrome caused by truncating variants in the last exon of CREBBP gene: clinical phenotypic characteristics and comparative analysis
Objective To analyze the clinical characteristics of children carrying truncating variants in the last exon of CREBBP and to explore their phenotypic features in comparison with the classical Rubinstein-Taybi syndrome (RSTS). Methods The clinical and genetic data of three patients carrying truncatin...
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| Autor principal: | |
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| Formato: | Artigo |
| Idioma: | Chinês |
| Publicado em: |
Editorial Office of Journal of Clinical Pediatrics
2026-06-01
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| Colecção: | Linchuang erke zazhi |
| Assuntos: | |
| Acesso em linha: | https://jcp.xinhuamed.com.cn/fileup/1000-3606/PDF/1780540832417-944959306.pdf |
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