Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome - Bai, Ying; Sun, Yue; Yu, Chenguang; Xia, Yanjie; Wu, Jing; Wang, Li; Gao, Yong; Tu, Xin; Kong, Xiangdong (Orphanet Journal of Rare Diseases, 2024)