Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China

BACKGROUND: We aimed to analyze the genotype-phenotype correlations of STXBP1 pathogenic variants, prognostic factors and the treatment choices in a case-series of STXBP1-related disorders from China. METHODS: The clinical data and genetic results of the children diagnosed with STXBP1-related disord...

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Detalles Bibliográficos
Autores principales: Kessi, Miriam, Chen, Baiyu, Shan, Li-Dan, Wang, Ying, Yang, Lifen, Yin, Fei, He, Fang, Peng, Jing, Wang, Guoli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9990233/
https://www.ncbi.nlm.nih.gov/pubmed/36882827
http://dx.doi.org/10.1186/s12920-023-01474-2

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