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Case report: further delineation of AEBP1-related Ehlers–Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature

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Published in 2023 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2023.1102101

Abstract: The Ehlers–Danlos Syndromes (EDS), a group of hereditary connective tissue disorders, were classified into 13 subtypes in the 2017 International Classification. Recently, a new subtype of EDS called classical-like EDS type 2 (clEDS2), which is… read more here.

Keywords: collagen; patient; classical like; ehlers danlos ... See more keywords