Literature DB >> 32175940

A review of Ehlers-Danlos syndrome.

Erin Miller1, John M Grosel.   

Abstract

Ehlers-Danlos syndrome (EDS) describes a group of heritable disorders of connective tissue comprising mutations in the genes involved in the structure and/or biosynthesis of collagen. Thirteen EDS subtypes are recognized, with a wide degree of symptom overlap among subtypes and with other connective tissue disorders. The clinical hallmarks of EDS are tissue fragility, joint hypermobility, and skin hyperextensibility. Appropriate diagnosis of EDS is important for correct multidisciplinary management and is associated with better clinical outcomes for patients.

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Year:  2020        PMID: 32175940     DOI: 10.1097/01.JAA.0000657160.48246.91

Source DB:  PubMed          Journal:  JAAPA        ISSN: 0893-7400


  6 in total

1.  Single-level posterior lumbar fusions in patients with Ehlers Danlos Syndrome not found to be associated with increased postoperative adverse events or five-year reoperations.

Authors:  Michael J Gouzoulis; Alexander J Kammien; Justin R Zhu; Stephen M Gillinov; Harold G Moore; Jonathan N Grauer
Journal:  N Am Spine Soc J       Date:  2022-06-22

2.  Establishing an Ehlers-Danlos Syndrome Clinic: Lessons Learned.

Authors:  Dacre R T Knight; Sunnie M Confiado; Katelyn A Bruno; DeLisa Fairweather; Andrea M Seymour-Sonnier; Angita Jain; Jessica M Gehin; Emily R Whelan; Joshua H Culberson; Bala Munipalli; Nancy L Dawson; Todd D Rozen; Joseph J Wick; Archana Kotha
Journal:  SN Compr Clin Med       Date:  2022-07-05

Review 3.  Dominant Stickler Syndrome.

Authors:  Zack Soh; Allan J Richards; Annie McNinch; Philip Alexander; Howard Martin; Martin P Snead
Journal:  Genes (Basel)       Date:  2022-06-18       Impact factor: 4.141

4.  The Probable, Possible, and Novel Functions of ERp29.

Authors:  Margaret Brecker; Svetlana Khakhina; Tyler J Schubert; Zachary Thompson; Ronald C Rubenstein
Journal:  Front Physiol       Date:  2020-09-08       Impact factor: 4.566

Review 5.  Into the Tissues: Extracellular Matrix and Its Artificial Substitutes: Cell Signalling Mechanisms.

Authors:  Aleksandra Bandzerewicz; Agnieszka Gadomska-Gajadhur
Journal:  Cells       Date:  2022-03-07       Impact factor: 6.600

6.  Case report: Multiple gastrointestinal perforations in a rare musculocontractural Ehlers-Danlos syndrome with multiple organ dysfunction.

Authors:  Huitao Qian; Tao Zhou; Nan Zheng; Qiulun Lu; Yi Han
Journal:  Front Genet       Date:  2022-08-15       Impact factor: 4.772

  6 in total

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