Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene

BACKGROUND: Rubinstein–Taybi syndrome (RSTS) is an extremely rare autosomal dominant inheritable disorder caused by CREBBP and EP300 mutations, while atypical RSTS harbouring variant from the same genes but not obvious resembling RSTS. There are only a few cases of Menke–Hennekam syndrome (MKHK) wit...

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Detalles Bibliográficos
Autores principales: Bai, Zhouxian, Li, Gaopan, Kong, Xiangdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9933371/
https://www.ncbi.nlm.nih.gov/pubmed/36797748
http://dx.doi.org/10.1186/s12920-022-01424-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9933371/
https://www.ncbi.nlm.nih.gov/pubmed/36797748
http://dx.doi.org/10.1186/s12920-022-01424-4

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