De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia

BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability, classified into two types RSTS1 (CREBBP-RSTS) and RSTS2 (EP300-RSTS). More often, the clinical f...

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Detalles Bibliográficos
Autores principales: Huang, Xiaoyu, Rui, Xue, Zhang, Shuang, Qi, Xiaolong, Rong, Weining, Sheng, Xunlun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10120144/
https://www.ncbi.nlm.nih.gov/pubmed/37085840
http://dx.doi.org/10.1186/s12920-023-01516-9

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