{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T18:18:50Z","timestamp":1790014730935,"version":"4.0.1"},"reference-count":12,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2018,3,1]],"date-time":"2018-03-01T00:00:00Z","timestamp":1519862400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","mayoclinicproceedings.org","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mayo Clinic Proceedings"],"published-print":{"date-parts":[[2018,3]]},"DOI":"10.1016\/j.mayocp.2018.01.007","type":"journal-article","created":{"date-parts":[[2018,3,1]],"date-time":"2018-03-01T20:14:39Z","timestamp":1519935279000},"page":"386-391","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["COL1A1 Mutations Presenting as Descending Perineum Syndrome in a Young Patient With Hypermobility Syndrome"],"prefix":"10.1016","volume":"93","author":[{"given":"Priya","family":"Vijayvargiya","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Camilleri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert R.","family":"Cima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"11","key":"10.1016\/j.mayocp.2018.01.007_bib1","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1111\/nmo.12665","article-title":"Ehlers Danlos syndrome and gastrointestinal manifestations: a 20-year experience at Mayo Clinic","volume":"27","author":"Nelson","year":"2015","journal-title":"Neurogastroenterol Motil"},{"issue":"10","key":"10.1016\/j.mayocp.2018.01.007_bib2","doi-asserted-by":"crossref","DOI":"10.1111\/j.1365-2982.2010.01562.x","article-title":"Joint hypermobility and rectal evacuatory dysfunction: an etiological link in abnormal connective tissue?","volume":"22","author":"Mohammed","year":"2010","journal-title":"Neurogastroenterol Motil"},{"issue":"6","key":"10.1016\/j.mayocp.2018.01.007_bib3","first-page":"477","article-title":"The syndrome of the descending perineum","volume":"59","author":"Parks","year":"1966","journal-title":"Proc R Soc Med"},{"issue":"9","key":"10.1016\/j.mayocp.2018.01.007_bib4","first-page":"1471","article-title":"Audit of constipation in a tertiary referral gastroenterology practice","volume":"90","author":"Surrenti","year":"1995","journal-title":"Am J Gastroenterol"},{"issue":"1","key":"10.1016\/j.mayocp.2018.01.007_bib5","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/S0016-5085(83)80231-5","article-title":"Differences in anal sphincter function and clinical presentation in patients with pelvic floor descent","volume":"85","author":"Bartolo","year":"1983","journal-title":"Gastroenterology"},{"issue":"2","key":"10.1016\/j.mayocp.2018.01.007_bib6","doi-asserted-by":"crossref","first-page":"S16","DOI":"10.1016\/j.jmig.2013.12.101","article-title":"Descending perineum syndrome: a fresh look at an interesting and complex pelvic floor disorder","volume":"21","author":"El-Nashar","year":"2014","journal-title":"J\u00a0Minim Invasive Gynecol"},{"issue":"10","key":"10.1016\/j.mayocp.2018.01.007_bib8","doi-asserted-by":"crossref","first-page":"6463","DOI":"10.1074\/jbc.M511830200","article-title":"Molecular mechanism of alpha 1(I)-osteogenesis imperfecta\/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix","volume":"281","author":"Makareeva","year":"2006","journal-title":"J\u00a0Biol Chem"},{"issue":"2","key":"10.1016\/j.mayocp.2018.01.007_bib10","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1111\/j.1399-0004.2006.00646.x","article-title":"Osteogenesis imperfecta: clinical, biochemical and molecular findings","volume":"70","author":"Venturi","year":"2006","journal-title":"Clin Genet"},{"issue":"19","key":"10.1016\/j.mayocp.2018.01.007_bib11","doi-asserted-by":"crossref","first-page":"19259","DOI":"10.1074\/jbc.M414698200","article-title":"Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta\/Ehlers-Danlos syndrome by interference with N-propeptide processing","volume":"280","author":"Cabral","year":"2005","journal-title":"J\u00a0Biol Chem"},{"issue":"1","key":"10.1016\/j.mayocp.2018.01.007_bib12","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1172\/JCI114424","article-title":"Frameshift mutation near the 3\u2032 end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I","volume":"85","author":"Willing","year":"1990","journal-title":"J\u00a0Clin Invest"},{"issue":"1","key":"10.1016\/j.mayocp.2018.01.007_bib13","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1111\/j.1572-0241.1999.00782.x","article-title":"Descending perineum syndrome: audit of clinical and laboratory features and outcome of pelvic floor retraining","volume":"94","author":"Harewood","year":"1999","journal-title":"Am J Gastroenterol"},{"issue":"7","key":"10.1016\/j.mayocp.2018.01.007_bib14","doi-asserted-by":"crossref","DOI":"10.1111\/nmo.13044","article-title":"Rectal gas volume: defining cut-offs for screening for evacuation disorders in patients with constipation","volume":"29","author":"Park","year":"2017","journal-title":"Neurogastroenterol Motil"}],"container-title":["Mayo Clinic Proceedings"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0025619618300363?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0025619618300363?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,10,28]],"date-time":"2020-10-28T22:09:24Z","timestamp":1603922964000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0025619618300363"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["S0025619618300363"],"URL":"https:\/\/doi.org\/10.1016\/j.mayocp.2018.01.007","relation":{},"ISSN":["0025-6196"],"issn-type":[{"value":"0025-6196","type":"print"}],"subject":[],"published":{"date-parts":[[2018,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"COL1A1 Mutations Presenting as Descending Perineum Syndrome in a Young Patient With Hypermobility Syndrome","name":"articletitle","label":"Article Title"},{"value":"Mayo Clinic Proceedings","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mayocp.2018.01.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Mayo Foundation for Medical Education and Research","name":"copyright","label":"Copyright"}]}}