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Article

Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities.

Advances in experimental medicine and biology - 1 Jan 2021

Miyake Noriko, Kosho Tomoki, Matsumoto Naomichi

Abstract excerpt

Ehlers-Danlos syndrome (EDS) is a genetically and clinically heterogeneous group of connective tissue disorders that typically present with skin hyperextensibility, joint hypermobility, and tissue fragility. The major cause of EDS appears to be impaired biosynthesis and enzymatic modification of collagen. In this chapter, we discuss two types of EDS that are associated with proteoglycan abnormalities:...

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Source

Identifiers

PMID: 34807422
DOI: 10.1007/978-3-030-80614-9_10

Genes

B3GALT6
B4GALT7
CHST14
DSE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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