Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome is a group of heritable connective tissue disorders that have 13 different subtypes. Discover the latest research on Ehlers-Danos syndrome here.

January 13, 2022
Case Report

Ehlers-Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1.

American Journal of Medical Genetics. Part a
Sandra CoppensFlorence Christiaens
January 10, 2022

Generation of a COL1A2 homozygous knockout stem cell line via CRISPR/Cas9 system.

Stem Cell Research
Shuhong MaHongfeng Jiang
January 11, 2022

Cardiovascular manifestations of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

Vascular Medicine
Eman R RashedAmy R Kontorovich
January 8, 2022

Longitudinal analysis of symptoms in the Ehlers-Danlos syndromes.

American Journal of Medical Genetics. Part a
Jane R SchubartClair A Francomano
January 7, 2022

Healthcare utilization among youth with Ehlers-Danlos syndrome hypermobile type.

American Journal of Medical Genetics. Part a
Sara E WilliamsDerek Neilson
January 6, 2022
Review

Considerations for lactation with Ehlers-Danlos syndrome: a narrative review.

International Breastfeeding Journal
Jimi Francis, Darby D Dickton
January 3, 2022

'I Have Had to Stop Singing Because I Can't Take the Pain': Experiences of Voice, Ability, and Loss in Singers With Hypermobility Spectrum Disorders.

Journal of Voice : Official Journal of the Voice Foundation
Tracy JefferyKatherine Meizel
December 30, 2021
Preprint
Open Access

Ablation of the FACIT collagen XII disturbs musculoskeletal ECM organization and causes patella dislocation and myopathy

BioRxiv : the Preprint Server for Biology
M. ZhuJ. Altmueller
December 31, 2021

Patients With Ehlers-Danlos Syndromes Experience Higher Rates of Prosthetic Dislocation After Total Hip Arthroplasty and Worse Implant Survival at 5 Years.

The Journal of the American Academy of Orthopaedic Surgeons
Harold G MooreJonathan N Grauer
December 25, 2021
Open Access

Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome.

Genes
Lucia MicaleMarco Castori
December 23, 2021
Case Report

First reported case of fragile foal syndrome type 1 in the Thoroughbred caused by PLOD1 c.2032G>A.

Equine Veterinary Journal
A S GrillosR R Bellone
December 16, 2021

Timely Communication Through Telehealth: Added Value for a Caregiver During COVID-19.

Frontiers in Public Health
Lauren Hajjar, Ben Kragen
December 16, 2021

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Lucia MicaleMarco Castori
December 14, 2021

Safety and Effectiveness of TEVAR in Native Proximal Landing Zone 2 for Chronic Type B Aortic Dissection in Patients With Genetic Aortic Syndrome.

Journal of Endovascular Therapy : an Official Journal of the International Society of Endovascular Specialists
Ahmed EleshraTilo Kölbel
December 11, 2021

Laryngological presentations and patient-reported outcome measures in Ehlers-Danlos syndrome.

The Journal of Laryngology and Otology
Chon Meng LamMartin A Birchall

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