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

• Päätekijät: Miriam Kessi (Tekijä), Baiyu Chen (Tekijä), Li-Dan Shan (Tekijä), Ying Wang (Tekijä), Lifen Yang (Tekijä), Fei Yin (Tekijä), Fang He (Tekijä), Jing Peng (Tekijä), Guoli Wang (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: BMC, 2023-03-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

Abstract 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...