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A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder
Published 2021-09-01Subjects: Get full text
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Progress in Clinical Diagnosis and Management of Hypermobility Spectrum Disorders
Published 2023-10-01Subjects: Get full text
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324
Pediatric joint hypermobility: a diagnostic framework and narrative review
Published 2023-05-01Subjects: Get full text
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325
Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health
Published 2021-05-01Subjects: Get full text
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Case report: Mild phenotype of a patient with vascular Ehlers–Danlos syndrome and COL3A1 duplication mutation without alteration in the [Gly-X-Y] repeat sequence
Published 2022-11-01Subjects: “…Vascular Ehlers–Danlos syndrome…”
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Idiopathic osteoporosis, Ehlers–Danlos syndrome, postural orthostatic tachycardia syndrome, and mast cell activation disorder in a 27‐year‐old male patient: A unique case presentation
Published 2022-05-01Subjects: “…Ehlers–Danlos syndrome…”
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330
Automated, Vision-Based Goniometry and Range of Motion Calculation in Individuals With Suspected Ehlers-Danlos Syndromes/Generalized Hypermobility Spectrum Disorders: A Comparison of Pose-Estimation Libraries to Goniometric Measurements
Published 2024-01-01“…Generalized joint hypermobility (GJH) often leads clinicians to suspect a diagnosis of Ehlers Danlos Syndrome (EDS), but it can be difficult to objectively assess. …”
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Perioperative opioid-minimization approach as a useful protocol in the management of patients with Ehlers–Danlos syndrome-hypermobility type, craniocervical instability and severe chronic pain who are to undergo occipito-cervical fixation
Published 2023-07-01“…Abstract Patients suffering from connective tissue disorders like Ehlers–Danlos syndrome hypermobility type/joint hypermobility syndrome (EDS-HT/JHS) may be affected by craniocervical instability (CCI). …”
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RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers–Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms
Published 2022-12-01Subjects: Get full text
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335
Congenital Defects in a Patient Carrying a Novel Homozygous <i>AEBP1</i> Variant: Further Expansion of the Phenotypic Spectrum of Ehlers–Danlos Syndrome Classical-like Type 2?
Published 2022-12-01Subjects: “…Ehlers–Danlos Syndrome…”
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336
Arabic translation, cultural adaptation, and validation of the Bristol Impact of Hypermobility questionnaire
Published 2023-06-01Subjects: Get full text
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337
Early intestinal perforation secondary to congenital mesenteric defects
Published 2016-05-01Subjects: Get full text
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338
POTS and Pregnancy: A Review of Literature and Recommendations for Evaluation and Treatment
Published 2022-12-01Subjects: Get full text
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339
Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variant in <i>CHST14</i> (mcEDS-<i>CHST14</i>)
Published 2023-05-01Subjects: “…musculocontractural Ehlers–Danlos syndrome (mcEDS)…”
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340
Does brittle cornea syndrome have a bone fragility phenotype?
Published 2021-12-01Subjects: Get full text
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