{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T14:29:34Z","timestamp":1788791374397,"version":"build-2803163510"},"reference-count":19,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T00:00:00Z","timestamp":1788739200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006769","name":"Russian Science Foundation","doi-asserted-by":"publisher","award":["25-75-00057"],"award-info":[{"award-number":["25-75-00057"]}],"id":[{"id":"10.13039\/501100006769","id-type":"DOI","asserted-by":"publisher"}]},{"award":["25-75-00057"],"award-info":[{"award-number":["25-75-00057"]}],"id":[{"id":"https:\/\/ror.org\/03y2gwe85","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int. J. Mol. Sci.","IJMS"],"abstract":"<jats:p>Ehlers\u2013Danlos syndrome (EDS) comprises a heterogeneous group of inherited connective tissue disorders. The 2017 International Classification of EDS delineates 13 subtypes, which are caused by pathogenic variants in 19 distinct genes encoding various collagen types or proteins involved in collagen metabolism. EDS is characterized by considerable clinical variability, both across EDS subtypes and in terms of phenotypic polymorphism and disease severity within individual subtypes. The present study describes a clinical case of classical-type Ehlers\u2013Danlos syndrome segregating across three generations, illustrating the clinical variability observed within a single family carrying a single rare pathogenic variant, NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs). Furthermore, this report clarifies and expands the phenotypic spectrum associated with this specific variant.<\/jats:p>","DOI":"10.3390\/ijms27177952","type":"journal-article","created":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T13:53:28Z","timestamp":1788789208000},"page":"7952","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical Variability of Classical Ehlers\u2013Danlos Syndrome: A Family with Rare COL5A1 Variant and Case-Based Review"],"prefix":"10.3390","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5965-2108","authenticated-orcid":false,"given":"Karina E.","family":"Akhiiarova","sequence":"first","affiliation":[{"name":"Department of Internal Diseases and Clinical Psychology, Bashkir State Medical University, Ufa 450008, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0601-7044","authenticated-orcid":false,"given":"Ekaterina N.","family":"Loginova","sequence":"additional","affiliation":[{"name":"Department of Internal Diseases and Family Medicine, Additional Postgraduate Education, Omsk State Medical University, Omsk 644099, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5601-0994","authenticated-orcid":false,"given":"Rita R.","family":"Kildiyarova","sequence":"additional","affiliation":[{"name":"Department of Propaedeutics of Childhood Diseases, N.F. Filatov Clinical Institute of Child Health, I.M. Sechenov First Moscow State Medical University, Moscow 119146, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8643-850X","authenticated-orcid":false,"given":"Rita I.","family":"Khusainova","sequence":"additional","affiliation":[{"name":"Department of Internal Diseases and Clinical Psychology, Bashkir State Medical University, Ufa 450008, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0841-3024","authenticated-orcid":false,"given":"Anton V.","family":"Tyurin","sequence":"additional","affiliation":[{"name":"Department of Internal Diseases and Clinical Psychology, Bashkir State Medical University, Ufa 450008, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,9,7]]},"reference":[{"key":"ref_1","first-page":"538","article-title":"Mutation Analysis of COL5A1 Gene in Classic Ehlers-Danlos Syndrome","volume":"40","author":"He","year":"2024","journal-title":"China J. 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