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

• मुख्य लेखकों: Miriam Kessi (लेखक), Baiyu Chen (लेखक), Li-Dan Shan (लेखक), Ying Wang (लेखक), Lifen Yang (लेखक), Fei Yin (लेखक), Fang He (लेखक), Jing Peng (लेखक), Guoli Wang (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2023-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...