{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T02:28:24Z","timestamp":1793759304037,"version":"4.6.1"},"reference-count":48,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,7,16]],"date-time":"2025-07-16T00:00:00Z","timestamp":1752624000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2025,9]]},"DOI":"10.1016\/j.gim.2025.101514","type":"journal-article","created":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T04:43:09Z","timestamp":1751431389000},"page":"101514","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":28,"title":["COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management"],"prefix":"10.1016","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3981-2730","authenticated-orcid":false,"given":"Diana","family":"Tambala","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Vassar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Snow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Balestrini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Bersano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Guey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Bonaventura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Signorini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Sartori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Tonduti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Parazzini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Macchiaiolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Federica","family":"Pelizza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Pichiecchio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Massella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thibault","family":"Coste","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Orcesi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Politano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giacomo","family":"Bacci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Marziali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helene","family":"Dollfus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Mandelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcello","family":"Chinali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Plaisier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Simioni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaella","family":"Colombatti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renzo","family":"Guerrini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Tournier-Lasserve","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas B.","family":"Gould","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia L.","family":"Musolino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gim.2025.101514_bib1","series-title":"GeneReviews(\u00ae) [Internet]","author":"Plaisier","year":"2024"},{"key":"10.1016\/j.gim.2025.101514_bib2","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.matbio.2016.10.003","article-title":"Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations","volume":"57-58","author":"Jeanne","year":"2017","journal-title":"Matrix Biol"},{"issue":"1","key":"10.1016\/j.gim.2025.101514_bib3","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000392","article-title":"COL4A1-related autosomal recessive encephalopathy in 2 Turkish children","volume":"6","author":"Yaramis","year":"2020","journal-title":"Neurol Genet"},{"key":"10.1016\/j.gim.2025.101514_bib4","doi-asserted-by":"crossref","DOI":"10.1016\/j.clineuro.2022.107584","article-title":"Leukoencephalopathy with spot-like calcifications caused by recessive COL4A2 variants","volume":"225","author":"Nicita","year":"2023","journal-title":"Clin Neurol Neurosurg"},{"issue":"5","key":"10.1016\/j.gim.2025.101514_bib5","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1016\/j.ajhg.2019.03.007","article-title":"COL4A1 mutations cause neuromuscular disease with tissue-specific mechanistic heterogeneity","volume":"104","author":"Labelle-Dumais","year":"2019","journal-title":"Am J Hum Genet"},{"issue":"5","key":"10.1016\/j.gim.2025.101514_bib6","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1002\/ana.24782","article-title":"Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy","volume":"80","author":"Verdura","year":"2016","journal-title":"Ann Neurol"},{"issue":"4","key":"10.1016\/j.gim.2025.101514_bib7","doi-asserted-by":"crossref","DOI":"10.1001\/jamanetworkopen.2024.7034","article-title":"An AluYa5 insertion in the 3\u2032UTR of COL4A1 and cerebral small vessel disease","volume":"7","author":"Aloui","year":"2024","journal-title":"JAMA Netw Open"},{"issue":"10","key":"10.1016\/j.gim.2025.101514_bib8","doi-asserted-by":"crossref","first-page":"e624","DOI":"10.1161\/STROKEAHA.120.033864","article-title":"COL4A1 and COL4A2 duplication causes cerebral small vessel disease with recurrent early onset ischemic strokes","volume":"52","author":"Kuuluvainen","year":"2021","journal-title":"Stroke"},{"issue":"1","key":"10.1016\/j.gim.2025.101514_bib9","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/s41439-022-00199-5","article-title":"A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts","volume":"9","author":"Yakabe","year":"2022","journal-title":"Hum Genome Var"},{"issue":"11","key":"10.1016\/j.gim.2025.101514_bib10","doi-asserted-by":"crossref","first-page":"1789","DOI":"10.1007\/s00417-014-2800-6","article-title":"Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity","volume":"252","author":"Zenteno","year":"2014","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"issue":"11","key":"10.1016\/j.gim.2025.101514_bib11","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1038\/gim.2014.210","article-title":"The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature","volume":"17","author":"Meuwissen","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.gim.2025.101514_bib12","article-title":"Main features of COL4A1-COL4A2 related cerebral microangiopathies","volume":"3","author":"Guey","year":"2022","journal-title":"Cereb Circ Cogn Behav"},{"issue":"5","key":"10.1016\/j.gim.2025.101514_bib13","doi-asserted-by":"crossref","first-page":"2631","DOI":"10.1007\/s00415-023-11590-9","article-title":"Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke","volume":"270","author":"Roos","year":"2023","journal-title":"J Neurol"},{"issue":"10","key":"10.1016\/j.gim.2025.101514_bib14","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1093\/jnen\/nlad057","article-title":"A novel, pathogenic COL4A1 missense variant involving thrombotic microangiopathic leukoencephalopathy in a neonate","volume":"82","author":"Robinson","year":"2023","journal-title":"J Neuropathol Exp Neurol"},{"issue":"2","key":"10.1016\/j.gim.2025.101514_bib15","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1007\/s12975-021-00926-0","article-title":"A novel mutation in COL4A1 gene in a Chinese family with pontine autosomal dominant microangiopathy and leukoencephalopathy","volume":"13","author":"Li","year":"2022","journal-title":"Transl Stroke Res"},{"issue":"1","key":"10.1016\/j.gim.2025.101514_bib16","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000383","article-title":"Hemorrhagic cerebral small vessel disease caused by a novel mutation in 3\u2032 UTR of collagen type IV alpha 1","volume":"6","author":"Sakai","year":"2020","journal-title":"Neurol Genet"},{"issue":"4","key":"10.1016\/j.gim.2025.101514_bib17","article-title":"Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol","volume":"196","author":"Gasparini","year":"2024","journal-title":"Am J Med Genet C"},{"issue":"6","key":"10.1016\/j.gim.2025.101514_bib18","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1016\/j.jaapos.2019.07.002","article-title":"col4a1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective","volume":"23","author":"Khan","year":"2019","journal-title":"J AAPOS"},{"key":"10.1016\/j.gim.2025.101514_bib19","doi-asserted-by":"crossref","DOI":"10.1038\/srep18602","article-title":"Col4a1 mutations cause progressive retinal neovascular defects and retinopathy","volume":"6","author":"Alavi","year":"2016","journal-title":"Sci Rep"},{"issue":"12","key":"10.1016\/j.gim.2025.101514_bib20","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1016\/j.ejmg.2018.10.004","article-title":"Further refinement of COL4A1 and COL4A2 related cortical malformations","volume":"61","author":"Cavallin","year":"2018","journal-title":"Eur J Med Genet"},{"issue":"1","key":"10.1016\/j.gim.2025.101514_bib21","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1002\/epi4.12681","article-title":"COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria","volume":"8","author":"Straka","year":"2023","journal-title":"Epilepsia Open"},{"issue":"8","key":"10.1016\/j.gim.2025.101514_bib22","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1093\/jnen\/nlab026","article-title":"Novel variant in COL4A1 causes extensive prenatal intracranial hemorrhage and porencephaly","volume":"80","author":"Brock","year":"2021","journal-title":"J Neuropathol Exp Neurol"},{"issue":"1","key":"10.1016\/j.gim.2025.101514_bib23","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1002\/ajmg.a.36823","article-title":"Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation","volume":"167A","author":"Takenouchi","year":"2015","journal-title":"Am J Med Genet A"},{"issue":"5","key":"10.1016\/j.gim.2025.101514_bib24","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1002\/uog.22106","article-title":"Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and\/or ischemic cerebral lesions","volume":"57","author":"Maurice","year":"2021","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"4","key":"10.1016\/j.gim.2025.101514_bib25","doi-asserted-by":"crossref","DOI":"10.1016\/j.jstrokecerebrovasdis.2020.104652","article-title":"COL4A1 mutation as a cause of familial recurrent intracerebral hemorrhage","volume":"29","author":"Campo-Caballero","year":"2020","journal-title":"J Stroke Cerebrovasc Dis"},{"issue":"4","key":"10.1016\/j.gim.2025.101514_bib26","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2019.103825","article-title":"De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: a case report and review of the literature","volume":"63","author":"Kinoshita","year":"2020","journal-title":"Eur J Med Genet"},{"issue":"3","key":"10.1016\/j.gim.2025.101514_bib27","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1016\/j.ejpn.2019.02.006","article-title":"Cortical malformations and COL4A1 mutation: three new cases","volume":"23","author":"Vitale","year":"2019","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.gim.2025.101514_bib28","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.pediatrneurol.2016.04.010","article-title":"COL4A1 mutation in a neonate with intrauterine stroke and anterior segment dysgenesis","volume":"66","author":"Durrani-Kolarik","year":"2017","journal-title":"Pediatr Neurol"},{"issue":"3","key":"10.1016\/j.gim.2025.101514_bib29","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1007\/s00247-020-04847-2","article-title":"Fetal brain small vessel disease 1 caused by a novel mutation in the COL4A1 gene","volume":"51","author":"England","year":"2021","journal-title":"Pediatr Radiol"},{"issue":"1","key":"10.1016\/j.gim.2025.101514_bib30","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/NRL.0000000000000514","article-title":"Late-onset COL4A1 mutation with recurrent ischemic and hemorrhagic strokes","volume":"29","author":"Lee","year":"2024","journal-title":"Neurologist"},{"key":"10.1016\/j.gim.2025.101514_bib31","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2023.1237847","article-title":"Case report: recurrent pontine stroke and leukoencephalopathy in a patient with de novo mutation in COL4A1","volume":"14","author":"Zhang","year":"2023","journal-title":"Front Neurol"},{"issue":"11","key":"10.1016\/j.gim.2025.101514_bib32","doi-asserted-by":"crossref","first-page":"1654","DOI":"10.1038\/s41431-021-00880-3","article-title":"Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations","volume":"29","author":"Hausman-Kedem","year":"2021","journal-title":"Eur J Hum Genet"},{"issue":"8","key":"10.1016\/j.gim.2025.101514_bib33","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1136\/jmedgenet-2020-106896","article-title":"Prenatal clinical manifestations in individuals with COL4A1\/2 variants","volume":"58","author":"Itai","year":"2021","journal-title":"J Med Genet"},{"issue":"8","key":"10.1016\/j.gim.2025.101514_bib34","doi-asserted-by":"crossref","first-page":"e513","DOI":"10.1161\/STROKEAHA.110.581918","article-title":"COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review","volume":"41","author":"Lanfranconi","year":"2010","journal-title":"Stroke"},{"issue":"4","key":"10.1016\/j.gim.2025.101514_bib35","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1001\/archophthalmol.2010.42","article-title":"Ophthalmological features associated with COL4A1 mutations","volume":"128","author":"Coupry","year":"2010","journal-title":"Arch Ophthalmol"},{"issue":"6","key":"10.1016\/j.gim.2025.101514_bib36","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1111\/ene.14183","article-title":"Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology","volume":"27","author":"Mancuso","year":"2020","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.gim.2025.101514_bib37","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.pediatrneurol.2023.07.008","article-title":"Spectrum of fetal intraparenchymal hemorrhage in COL4A1\/A2-related disorders","volume":"147","author":"George","year":"2023","journal-title":"Pediatr Neurol"},{"issue":"8","key":"10.1016\/j.gim.2025.101514_bib38","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1016\/S1474-4422(13)70124-8","article-title":"Neuroimaging standards for research into small vessel disease and its contribution to ageing and neurodegeneration","volume":"12","author":"Wardlaw","year":"2013","journal-title":"Lancet Neurol"},{"issue":"2","key":"10.1016\/j.gim.2025.101514_bib39","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/s41433-021-01920-4","article-title":"Make it easier: 3-word strategies to help children with cerebral visual impairment use their vision more effectively","volume":"37","author":"Pilling","year":"2023","journal-title":"Eye (Lond)"},{"issue":"4","key":"10.1016\/j.gim.2025.101514_bib40","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1136\/bjophthalmol-2017-310694","article-title":"Is there consensus in defining childhood cerebral visual impairment? A systematic review of terminology and definitions","volume":"102","author":"Sakki","year":"2018","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.gim.2025.101514_bib41","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.spen.2019.05.004","article-title":"Cerebral visual impairment and clinical assessment: the European perspective","volume":"31","author":"Ortibus","year":"2019","journal-title":"Semin Pediatr Neurol"},{"key":"10.1016\/j.gim.2025.101514_bib42","article-title":"A neonatal patient diagnosed with a COL4A1 mutation presenting with hemorrhagic infarction and severe jaundice","volume":"2022","author":"Kirimura","year":"2022","journal-title":"Case Rep Genet"},{"issue":"9","key":"10.1016\/j.gim.2025.101514_bib43","doi-asserted-by":"crossref","first-page":"3025","DOI":"10.1161\/STROKEAHA.121.032620","article-title":"Hereditary cerebral small vessel diseases and stroke: a guide for diagnosis and management","volume":"52","author":"Guey","year":"2021","journal-title":"Stroke"},{"issue":"26","key":"10.1016\/j.gim.2025.101514_bib44","doi-asserted-by":"crossref","first-page":"2687","DOI":"10.1056\/NEJMoa071906","article-title":"COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps","volume":"357","author":"Plaisier","year":"2007","journal-title":"N Engl J Med"},{"issue":"11","key":"10.1016\/j.gim.2025.101514_bib45","doi-asserted-by":"crossref","first-page":"1908","DOI":"10.1093\/ndt\/gfw051","article-title":"A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen","volume":"31","author":"Gale","year":"2016","journal-title":"Nephrol Dial Transplant"},{"issue":"1","key":"10.1016\/j.gim.2025.101514_bib46","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.braindev.2019.09.001","article-title":"Life-threatening muscle complications of COL4A1-related disorder","volume":"42","author":"Okano","year":"2020","journal-title":"Brain Dev"},{"issue":"5","key":"10.1016\/j.gim.2025.101514_bib47","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1002\/pd.6113","article-title":"COL4A1\/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage","volume":"42","author":"Coste","year":"2022","journal-title":"Prenat Diagn"},{"issue":"4","key":"10.1016\/j.gim.2025.101514_bib48","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1093\/hmg\/ddy369","article-title":"4-sodium phenyl butyric acid has both efficacy and counter-indicative effects in the treatment of Col4a1 disease","volume":"28","author":"Jones","year":"2019","journal-title":"Hum Mol Genet"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360025001613?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360025001613?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T15:02:44Z","timestamp":1778943764000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360025001613"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":48,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["S1098360025001613"],"URL":"https:\/\/doi.org\/10.1016\/j.gim.2025.101514","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2025,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gim.2025.101514","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.","name":"copyright","label":"Copyright"}],"article-number":"101514"}}