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The Ehlers‐Danlos Syndrome
Abstract
The Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable disorders of connective tissue characterized by articular hypermobility, skin hyperextensibility, and tissue fragility affecting skin, ligaments, joints, blood vessels, and internal organs. In this chapter, we try to cover the EDS in a comprehensive and authoritative way, to consider the different aspects as objectively as possible, and to clarify earlier concepts and conclusions that today are no longer tenable. To give the reader an idea of how knowledge was gained, references are often cited in a historical sequence.
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“The hallmarks of the disorder are severe generalized joint hypermobility, congenital bilateral hip dislocation, and recurrent subluxations and dislocations of both small and large joint [Steinmann et al., 2002] (Representative picture of the phenotype are given in Fig. 1).”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Steinmann et al., 2002
In the citing paper
“A range of clinical severity is observed in individuals with kEDS-PLOD1 for each of the systems discussed as detailed in the above section [Steinmann et al., 2002;Rohrbach et al., 2011].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Steinmann et al., 2002
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Tinkle, B., Castori, M., Berglund, B., Cohen, H., Grahame, R., Kazkaz, H., & Levy, H. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31538 · Cited by 499
Metadata
- Authors
- Steinmann, B., Royce, P. M., & Superti‐Furga, A.
- Affiliations
- University of Zurich (CH)
- Venue
- Connective Tissue and Its Heritable Disorders
- Publisher
- Wiley
- Published
- 2002-05-10
- Pages
- 431-523
- OpenAlex
- W1531218076
- Cited by
- 358
- References
- 0
- Citations by year
- 2026: 3 · 2025: 10 · 2024: 9 · 2023: 5 · 2022: 5 · 2021: 13 · 2020: 14 · 2019: 11 · 2018: 9 · 2017: 16 · 2016: 12 · 2015: 16 · 2014: 19 · 2013: 18 · 2012: 21
- Type
- other
- Language
- en
- Open access
- closed
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Health Sciences › Dentistry › Periodontics › Oral and gingival health research
- Keywords
- Ehlers-Danlos syndrome, hereditary connective tissue disorders, skin hyperextensibility, tissue fragility, ligamentous laxity, vascular fragility, internal organ involvement
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