COL3A1haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type

Pepin, M., Schwarze, U., Superti-Furga, A., & Byers, P. H. (2000) · New England Journal of Medicine · doi:10.1056/nejm200003093421001 · Cited by 1,344

Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development

Liu, X., Wu, H., Byrne, M., Krane, S., & Jaenisch, R. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.5.1852 · Cited by 614

The human type I collagen mutation database

Dalgleish, R. (1997) · Nucleic Acids Research · doi:10.1093/nar/25.1.181 · Cited by 315

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV

Schwarze, U., Schievink, W. I., Petty, E., Jaff, M. R., Babovic-Vuksanovic, D., Cherry, K. J., Pepin, M., & Byers, P. H. (2001) · The American Journal of Human Genetics · doi:10.1086/324123 · Cited by 184

Splicing Defects in the COL3A1 Gene: Marked Preference for 5′ (Donor) Splice-Site Mutations in Patients with Exon-Skipping Mutations and Ehlers-Danlos Syndrome Type IV

Schwarze, U., Goldstein, J. A., & Byers, P. H. (1997) · The American Journal of Human Genetics · doi:10.1086/301641 · Cited by 74

Redefinition of Exon 7 in the COL1A1 Gene of Type I Collagen by an Intron 8 Splice-Donor–Site Mutation in a Form of Osteogenesis Imperfecta: Influence of Intron Splice Order on Outcome of Splice-Site Mutation

Schwarze, U., Starman, B. J., & Byers, P. H. (1999) · The American Journal of Human Genetics · doi:10.1086/302512 · Cited by 64

Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome

Plancke, A., Holder‐Espinasse, M., Rigau, V., Manouvrier‐Hanu, S., Claustres, M., & Kien, P. K. V. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.76 · Cited by 52

The Haploinsufficient Col3a1 Mouse as a Model for Vascular Ehlers-Danlos Syndrome

Cooper, T. K., Zhong, Q., Krawczyk, M., Tae, H.-J., Müller, G. A., Schubert, R., Myers, L. A., Dietz, H. C., Talan, M. I., & Briest, W. (2010) · Veterinary Pathology · doi:10.1177/0300985810374842 · Cited by 51

Successful Endovascular Repair of Acute Type B Aortic Dissection in Undiagnosed Ehlers–Danlos Syndrome Type IV

Khalique, Z., Lyons, O., Clough, R. E., Bell, R. E., REIDY, J. F., Schwarze, U., Byers, P. H., & Taylor, P. R. (2009) · European Journal of Vascular and Endovascular Surgery · doi:10.1016/j.ejvs.2009.07.009 · Cited by 24

Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997

Beighton, P., Paepe, A. D., Steinmann, B., Tsipouras, P., & Wenstrup, R. J. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980428)77:1

OBSOLETE: Genetic Disorders of the Vasculature

Elefteriades, J. A. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.99692-2 · Cited by 2

Clinical and genetic parallels of the classification and diagnosis of Ehlers-Danlos syndrome

Nadyrshina, D. D., Тюрин, А. В., Хуснутдинова, Э. К., & Хусаинова, Р. И. (2021) · Nauchno-prakticheskii zhurnal «Medicinskaia genetika» · doi:10.25557/2073-7998.2021.06.14-26 · Cited by 2

Constitutional Disorders

Solomon, B. D. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-404748-8.00017-4 · Cited by 1

Vascular findings in five unrelated children with vascular Ehlers-Danlos syndrome: A multi-case report

Sekkelsten, A. I. S., Skattør, T. H., Holmström, H., Krohg‐Sørensen, K., & Paus, B. (2025) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2025.105035 · Cited by 1

Sex differences in aortopathy, arteriopathy, and mortality in vascular Ehlers-Danlos syndrome

Elhance, A., Lian, T., Mahoney, R. C., Huntley, D. P., Holmes, K. W., Russo, M., Wiszniewski, W. K., Byers, P. H., & Shalhub, S. (2026) · Journal of Vascular Surgery · doi:10.1016/j.jvs.2026.01.018 · Cited by 2

Contemporary Outcomes of Thoracic Endovascular Aortic Repair in Patients with Syndromic Genetic Aortopathy: A Multi-Centre National Study

Willie-Permor, D., Veranyan, N., Abdelkarim, A., Straus, S. L., Rahgozar, S., Wellington, H., Shalhub, S., & Malas, M. B. (2026) · Annals of Vascular Surgery · doi:10.1016/j.avsg.2026.01.032 · Cited by 1

Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series

Ghali, N., Angwin, C., Liebert, S., Deaner, A., von Klemperer, K., Wheeldon, N. M., Johnson, D. S., Sobey, G. J., Samani, N. J., Webb, T. R., et al. (2026) · European Journal of Human Genetics · doi:10.1038/s41431-026-02074-1 · Cited by 1

What Every Vascular Surgeon Should Know About Vascular Ehlers-Danlos Syndrome

Lian, T., Bhandari, A., & Shalhub, S. (2026) · Annals of Vascular Surgery · doi:10.1016/j.avsg.2026.03.032 · Cited by 2

Case 30-2021: A 47-Year-Old Man with Recurrent Unilateral Head and Neck Pain

Lindsay, M. E., Dudzinski, D. M., Yoon, B. C., Jaff, M. R., & Thakuria, J. V. (2021) · New England Journal of Medicine · doi:10.1056/nejmcpc2107347 · Cited by 1

Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome

Green, C. E., Albaba, S., Sobey, G. J., Bowen, J. M., Donnelly, D. E., Colombi, M., Ritelli, M., Melville, A. A. D., Ghali, N., van Dijk, F. S., et al. (2025) · European Journal of Human Genetics · doi:10.1038/s41431-025-01849-2 · Cited by 1

On-pump coronary artery bypass surgery in vascular Ehlers-Danlos syndrome

Kelly, R. P., Horne, S. G., Molinari, M., & Wood, J. R. (2014) · BMJ Case Reports · doi:10.1136/bcr-2014-206299 · Cited by 1

Heritable Thoracic Aortic Disease: Single Gene Disorders Predisposing to Thoracic Aortic Aneurysms and Acute Aortic Dissections

Morris, S. A., & Milewicz, D. M. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-812532-8.00005-7 · Cited by 1

Hereditary Disorders of the Dermis

Paller, A. S., & Mancini, A. J. (2016) · Elsevier eBooks · doi:10.1016/b978-0-323-24475-6.00006-6 · Cited by 1

Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities

Fajardo-Jiménez, M. J., Moreno, J., Mejía‐García, A., Villegas‐Lanau, A., Zapata, W., Restrepo, J. E., Montoya, G. P. C., & Hernández, J. C. (2022) · Genes · doi:10.3390/genes13112118 · Cited by 4

Genetic Disorders of Collagen, Elastin and Dermal Matrix

Burrows, N. (2016) · Wiley eBooks · doi:10.1002/9781118441213.rtd0073 · Cited by 1

Molecular Genetics of Ehlers–Danlos Syndrome

Mayer, K. (2012) · Wiley eBooks · doi:10.1002/9780470015902.a0024295

Atomic-Scale Biophysics Modelling of Type I Collagen in the Extracellular Matrix

Tang, M. (2019) · Queensland University of Technology · doi:10.5204/thesis.eprints.124650

Asymptomatic bilateral common iliac artery dissections in previously undiagnosed vascular Ehlers-Danlos syndrome

Lavoie, M., & Reese, J. (2019) · BMJ Case Reports · doi:10.1136/bcr-2019-231537

Genetically-Triggered Aortic Dissections

Russo, M. L., & Ding, J. J. (2021) · Springer eBooks · doi:10.1007/978-3-030-66668-2_4

Peer Review #1 of "First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects (v0.1)"

(2016) · PeerJ · doi:10.7287/peerj.1955v0.1/reviews/1

Identification of the Gene for Scleroderma in the Tsk/2 Mouse Strain: Implications for Human Scleroderma Pathogenesis and subset Distinctions

Blankenhorn, E. P., Whitfield, M. L., & Artlett, C. M. (2014) · Defense Technical Information Center (DTIC) · doi:10.21236/ada613588

Peer Review #2 of "First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects (v0.2)"

(2016) · PeerJ · doi:10.7287/peerj.1955v0.2/reviews/2

Peer Review #1 of "First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects (v0.2)"

(2016) · PeerJ · doi:10.7287/peerj.1955v0.2/reviews/1

Peer Review #2 of "First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects (v0.1)"

(2016) · PeerJ · doi:10.7287/peerj.1955v0.1/reviews/2

Two Novel Variants of COL3A1 in Patients with Vascular Ehlers-Danlos Syndrome: Importance of RNA Sequencing and Consideration of Testing StrategyPreprint

Heo, W. Y., Jang, S. Y., Park, T. K., Ki, C., Kim, J., Kim, D., & Jang, J. (2022) · SSRN Electronic Journal · doi:10.2139/ssrn.4149501

Genetic Disorders of Collagen, Elastin and Dermal Matrix

Burrows, N. (2024) · Wiley eBooks · doi:10.1002/9781119709268.rook070

Collagenopathies – The Ehlers-Danlos syndromes

Malfait, F. (2024) · Elsevier eBooks · doi:10.1016/b978-0-12-822951-4.00011-4

Is Exon Skipping a Viable Therapeutic Approach for Vascular Ehlers–Danlos Syndrome with Mutations in COL3A1 Exon 10 or 15?

Utama, S., Cale, J. M., Mitrpant, C., Fletcher, S., Wilton, S. D., & Aung-Htut, M. T. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25168816

Genetics of Thoracic and Thoracoabdominal Aortic Dissections and Aneurysms

Ríos, J. L. D. L. C., & Magee, G. A. (2025) · Cardiology Clinics · doi:10.1016/j.ccl.2024.12.014 · Cited by 1

Procedural decisions in the context of vascular substrate vulnerability: Lessons from vascular Ehlers-Danlos syndrome

Shalhub, S. (2025) · Journal of Vascular Surgery Cases and Innovative Techniques · doi:10.1016/j.jvscit.2025.101823

Vascular Ehlers-Danlos Syndrome

DePace, N. L., Soloway, S., Yayac, M. F., & Colombo, J. (2025) · Springer eBooks · doi:10.1007/978-3-031-88769-7_6

Genetics of Thoracic and Thoracoabdominal Aortic Dissections and Aneurysms

Ríos, J. L. D. L. C., & Magee, G. A. (2025) · Heart Failure Clinics · doi:10.1016/j.hfc.2025.09.001

Syndrome d'Ehlers-Danlos vasculaire : caractérisation d'un modèle souris de la pathologie et recherche de facteurs modificateurs de la sévérité du phénotype

Legrand, A. (2021) · theses.fr (ABES) · doi:10.70675/09e63cdczfa5az49a2z8b60z1f4d1262ab77

Asymptomatic Pulmonary Involvement as the Initial Presentation of Vascular Ehlers-Danlos Syndrome with a Novel COL3A1 Frameshift Variant: A Case Report

Nogawa, H., Suzuki, H., Kawabata, Y., Honma, T., Aso, M., Ota, H., Nawa, S., Hino, T., & Hayashi, S. (2026) · Internal Medicine · doi:10.2169/internalmedicine.7307-26

Tissue vulnerability revealed by ultrastructural skin analysis as a surrogate for arterial integrity in two cases of vascular Ehlers-Danlos syndrome

Bhandari, A., Keene, D. R., Tufa, S. F., Flanagan, C. P., Sakai, L. Y., & Shalhub, S. (2026) · Journal of Vascular Surgery Cases and Innovative Techniques · doi:10.1016/j.jvscit.2026.102334

Mouse models of aortic aneurysm and dissection: pathophysiological insights and translational perspectives

He, C., Yanagisawa, H., Hsiai, T. K., & Xu, S. (2026) · Journal of Advanced Research · doi:10.1016/j.jare.2026.07.057

Bilateral anterior tibial artery pseudoaneurysms triggered by minor blunt trauma as the initial presentation of vascular Ehlers-Danlos syndrome with a whole-exon deletion

Yokoyama, J., Aoki, Y., Arita, K., Komoda, Y., Shirakawa, Y., Ozaki, T., & Sakaki, M. (2026) · Journal of Vascular Surgery Cases and Innovative Techniques · doi:10.1016/j.jvscit.2026.102490

Next-Generation Sequencing and Variant Analysis of Fibrillar (Pro)Collagens

Syx, D., Guillemyn, B., Symoens, S., Rosseel, T., Leeneer, K. D., & Malfait, F. (2026) · Methods in molecular biology · doi:10.1007/978-1-0716-5194-0_2

Aortopathy in Loeys-Dietz Syndrome and Vascular Ehlers-Danlos Syndrome

Backer, J. F. A. D., Teixidó‐Turà, G., & Evangelista, A. (2026) · Springer eBooks · doi:10.1007/978-3-032-35473-0_11

Genetic Aortopathies

Almousa, O., & Shalhub, S. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-28432-8.00008-9

Vascular Ehlers–Danlos syndrome: A multidisciplinary clinical framework for early suspicion, emergency‐safe management and lifelong care

Corrao, S., Ruggeri, M. I., Benedetto, A. D., Corrao, G., Calvo, L., & Scibetta, S. (2026) · Journal of Internal Medicine · doi:10.1111/joim.70165

Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)

Pepin, M. G., Schwarze, U., Rice, K. M., Liu, M., Leistritz, & Byers, P. H. (2014) · Genetics in Medicine · doi:10.1038/gim.2014.72 · Cited by 313

Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome

Plancke, A., Holder‐Espinasse, M., Rigau, V., Manouvrier‐Hanu, S., Claustres, M., & Kien, P. K. V. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.76 · Cited by 52

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV

Schwarze, U., Schievink, W. I., Petty, E., Jaff, M. R., Babovic-Vuksanovic, D., Cherry, K. J., Pepin, M., & Byers, P. H. (2001) · The American Journal of Human Genetics · doi:10.1086/324123 · Cited by 184

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type

Pepin, M., Schwarze, U., Superti-Furga, A., & Byers, P. H. (2000) · New England Journal of Medicine · doi:10.1056/nejm200003093421001 · Cited by 1,344

Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay

Mohandas, T. K., Park, J. P., Spellman, R. A., Filiano, J. J., Mamourian, A. C., Hawk, A. B., Belloni, D. R., Noll, W. W., & Moeschler, J. B. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990212)82:4 · Cited by 98