Whole‐exome sequencing facilitates the differential diagnosis of Ehlers–Danlos syndrome (EDS)
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DOI: 10.1002/mgg3.1885
Abstract: 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… read more here.
Keywords: ehlers danlos; whole exome; differential diagnosis; sequencing facilitates ... See more keywords