Importance of comprehensive genetic testing for patients with suspected vascular Ehlers–Danlos syndrome: a family case report and literature review by Xianda Wei, Xianda Wei, Xu Zhou, BoBo Xie, BoBo Xie, Meizhen Shi, Meizhen Shi, Chunrong Gui, Chunrong Gui, Bo Liu, Caiyan Li, Chi Zhang, Jiefeng Luo, Cundong Mi, Baoheng Gui, Baoheng Gui

Subjects: “…vascular Ehlers–Danlos syndrome…”
Get full text

Rhegmatogenous Retinal Detachment in Musculocontractural Ehlers–Danlos Syndrome Caused by Biallelic Loss-of-Function Variants of Gene for Dermatan Sulfate Epimerase by Yuji Yoshikawa, Takashi Koto, Tomoka Ishida, Tomoko Uehara, Mamiko Yamada, Kenjiro Kosaki, Makoto Inoue

Subjects: “…musculocontractural Ehlers–Danlos syndrome…”
Get full text

Therapeutic difficulties in a patient with Ehlers-Danlos syndrome and numerous symptomatic premature ventricular contractions—case report and literature review by Grzegorz Sławiński, Grzegorz Sławiński, Elżbieta Wabich, Maja Hawryszko, Ludmiła Daniłowicz-Szymanowicz, Philippe Chevalier

Subjects: “…Ehlers Danlos syndrome…”
Get full text

Maintenance Intravenous Immunoglobulin Treatment for Multiple Sclerosis Coexisting with Ehlers-Danlos Syndrome and Muir-Torre Syndrome: A Case Study by Srishti Gupta, Mohnish Suri, Cris S. Constantinescu

Subjects: “…Ehlers-Danlos syndrome…”
Get full text

Validation of the neuroconnective endophenotype questionnaire (NEQ): a new clinical tool for medicine and psychiatry resulting from the contribution of Ehlers–Danlos syndrome by Antonio Bulbena, Antonio Bulbena, Silvia Rosado, Silvia Rosado, Marina Cabaleiro, Marina Cabaleiro, María Martinez, María Martinez, Carolina Baeza-Velasco, Carolina Baeza-Velasco, Carolina Baeza-Velasco, Luis-Miguel Martin, Santiago Batlle, Andrea Bulbena-Cabré

Subjects: “…Ehlers-Danlos syndrome…”
Get full text

A TNXB splice donor site variant as a cause of hypermobility type Ehlers–Danlos syndrome in patients with congenital adrenal hyperplasia by Qizong Lao, Ashwini Mallappa, Fabio Rueda Faucz, Elizabeth Joyal, Padmasree Veeraraghavan, Wuyan Chen, Deborah P. Merke

Subjects: Get full text

Hypermobile type Ehlers‐Danlos syndrome associated with hypogammaglobulinemia and fibromyalgia: A case‐based review on new classification, diagnosis, and multidisciplinary management by Wei Zhang, Kevin Windsor, Richard Jones, David Oscar Taunton

Subjects: “…hypermobile type Ehlers‐Danlos syndrome…”
Get full text

Haploinsufficiency of Col5a1 causes intrinsic lung and respiratory changes in a mouse model of classical Ehlers‐Danlos syndrome by Jordan Fett, Milena Dimori, John L. Carroll, Roy Morello

“…Abstract The Ehlers‐Danlos syndromes (EDS) are inherited connective tissue diseases with primary manifestations that affect the skin and the musculoskeletal system. …”
Get full text

Education and employment status among adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome in Norway, a questionnaire based study. by Heidi Johansen, Gry Velvin, Ingeborg B Lidal

“…<h4>Objectives</h4>To describe education level and employment status among adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome, and explore factors related to work participation.…”
Get full text

Uterine torsion as an elusive obstetrical emergency in pregnancy: is there an association between gravid uterus torsion and Ehlers–Danlos syndrome?: a case report by Seyedeh Noushin Ghalandarpoor-Attar, Seyedeh Mojgan Ghalandarpoor-Attar

Subjects: Get full text

Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta by Michael F. Holick, Arash Shirvani, Nipith Charoenngam

Subjects: Get full text

Clinical and molecular delineation of classical-like Ehlers–Danlos syndrome through a comprehensive next-generation sequencing-based screening system by Tomomi Yamaguchi, Tomomi Yamaguchi, Tomomi Yamaguchi, Kazuo Yamada, Kazuo Yamada, So Nagai, So Nagai, So Nagai, Toshiya Nishikubo, Norimichi Koitabashi, Masako Minami-Hori, Masaaki Matsushima, Masaaki Matsushima, Yuka Shibata, Hiroki Ishiguro, Hiromi Sanai, Hiromi Sanai, Tomomi Fujikawa, Yuri Takiguchi, Ken-Ichi Matsumoto, Tomoki Kosho, Tomoki Kosho, Tomoki Kosho, Tomoki Kosho

Subjects: “…Ehlers-Danlos syndrome…”
Get full text

Is the Pain Just Physical? The Role of Psychological Distress, Quality of Life, and Autistic Traits in Ehlers–Danlos Syndrome, an Internet-Based Survey in Italy by Matteo Rocchetti, Alessandra Bassotti, Jacopo Corradi, Stefano Damiani, Gianluigi Pasta, Salvatore Annunziata, Viviana Guerrieri, Mario Mosconi, Davide Gentilini, Natascia Brondino

“…Background: Ehlers–Danlos syndromes (EDS) have been associated with psychological distress, comorbid psychiatric disorders, and worsening in quality of life (QoL). …”
Get full text

Physical and mechanical therapies for lower limb symptoms in children with Hypermobility Spectrum Disorder and Hypermobile Ehlers-Danlos Syndrome: a systematic review by Benjamin Peterson, Andrea Coda, Verity Pacey, Fiona Hawke

“…Abstract Background Hypermobility Spectrum Disorder and Hypermobile Ehlers Danlos Syndrome are two common heritable genetic disorders of connective tissue. …”
Get full text

A Heterozygous Missense Variant in the <i>COL5A2</i> in Holstein Cattle Resembling the Classical Ehlers–Danlos Syndrome by Joana G. P. Jacinto, Irene M. Häfliger, Inês M. B. Veiga, Anna Letko, Cinzia Benazzi, Marilena Bolcato, Cord Drögemüller

“…Classical Ehlers–Danlos syndrome (cEDS) is a heritable connective tissue disorder characterized by variable degrees of skin hyperextensibility and fragility, atrophic scarring, and generalized joint hypermobility. …”
Get full text

High overlap in patients diagnosed with hypermobile Ehlers-Danlos syndrome or hypermobile spectrum disorders with fibromyalgia and 40 self-reported symptoms and comorbidities by DeLisa Fairweather, Katelyn A. Bruno, Katelyn A. Bruno, Ashley A. Darakjian, Barbara K. Bruce, Jessica M. Gehin, Archana Kotha, Angita Jain, Zhongwei Peng, David O. Hodge, Todd D. Rozen, Bala Munipalli, Fernando A. Rivera, Pedro A. Malavet, Dacre R. T. Knight

Subjects: Get full text

Iliac artery dissection and rupture in a patient with classic Ehlers-Danlos syndrome due to COL5A1 null variant by Amit Pujari, MD, Sherene Shalhub, MD, MPH, FACS, DFSVS

Subjects: “…Classic Ehlers-Danlos syndrome…”
Get full text

Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene. by Marta Rebelo, Leonor Ramos, Jandira Lima, J Diniz Vieira, Purificação Tavares, Luísa Teixeira, Albuquerque Matos, J Nascimento Costa

“…The Ehlers-Danlos syndrome type IV (EDS-IV) is a hereditary, autosomal dominant disease that causes a defect in the procollagen III synthesis, which results in a structural modification in this protein. …”
Get full text

Fatal Ruptured Blood Blister-like Aneurysm of Middle Cerebral Artery Associated with Ehlers-Danlos Syndrome Type VIII (Periodontitis Type) by Ulaş Cıkla, Alireza Sadighi, Andrew Bauer, Mustafa K. Başkaya

Subjects: “…ehlers–danlos syndrome…”
Get full text

P210: Unexpected recurrence of vascular Ehlers-Danlos syndrome in sibships due to parental mosaicism for COL3A1 variants by Kenzie Conner, Ulrike Schwarze, Peter Byers, Dru Leistritz

Get full text