Autor: Deng, X., Zheng, Y., Wang, J., Shen, F., Luo, J., Liu, C., Yang, G., Yang, Y.
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Frequent FBN2 variants in pectus excavatum highlight underlying phenotypic variability
BackgroundDuring genetic screening for radioulnar synostosis (RUS), we identified FBN2 variants in individuals who also exhibited pectus excavatum (PE). This study aimed to investigate the association between FBN2 variants and non-syndromic paediatric …