Article
Whole-exome sequencing facilitates the differential diagnosis of Ehlers-Danlos syndrome (EDS).
Molecular genetics & genomic medicine - 1 Mar 2022
Yang Fang, Yang Rong-Juan, Li Qian, Zhang Jing, Meng Yan-Xin, Liu Xiao-Jun, Yao Yong-Feng
Abstract excerpt
Ehlers-Danlos syndromes (EDSs) are a group of rare monogenic conditions with strong heterogeneity and can be caused by 20 genes associating with the essence of the extracellular matrix (ECM). This study enrolled three cases with various subtypes of EDS. Clinical evaluation and genetic testing with whole-exome sequencing (WES) were performed. The clinical manifestations of all three patients were thoroughly...
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