Identification of a Novel 15q21.1 Microdeletion in a Family with Marfan Syndrome.
Rencong YangWu ZhangHua LuJinlong LiuYu XiaShengjie LiaoXiaohui LiXiaoshen ZhangXiao-Ping FanChaojie WangPublished in: Genetics research (2022)
Our study expands the phenotypic spectrum of the pathogenic CNV associated with MFS, thereby facilitating clinical genetic diagnosis and future genetic counseling for this family.