Clinical and molecular delineation of classical-like Ehlers–Danlos syndrome through a comprehensive next-generation sequencing-based screening system

Abstract excerpt

Classical-like Ehlers–Danlos syndrome (clEDS) is an autosomal recessive disorder caused by complete absence of tenascin-X resulting from biallelic variation in TNXB. Thus far, 50 patients from 43 families with biallelic TNXB variants have been identified. Accurate detection of TNXB variants is challenging because of the presence of the pseudogene TNXA, which can undergo non-allelic homologous recombination....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Connective tissue disorders research
• Share to Genetic factors in colorectal cancer
• Share to Peptidase Inhibition and Analysis