{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:26:40Z","timestamp":1788870400694,"version":"build-2803163510"},"reference-count":5,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2014,3,26]],"date-time":"2014-03-26T00:00:00Z","timestamp":1395792000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Freudmann Fund"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Biallelic mutations in\n                      <jats:italic>FKBP14<\/jats:italic>\n                      cause a recessive form of Ehlers\u2010Danlos syndrome (EDS) characterized by progressive kyphoscoliosis, myopathy, and hearing loss. To date, four children and one adult with this condition have been reported. We recently identified a 42\u2010year\u2010old man with severe kyphoscoliosis, restrictive\/obstructive lung disease, short stature, mild hearing loss, decreased muscle mass, and a dissection of the celiac artery at age 41. He also had complete occlusion of the superior mesenteric artery with compensatory flow through an enlarged and tortuous inferior mesenteric artery. He was homozygous for a previously identified\n                      <jats:italic>FKBP14<\/jats:italic>\n                      mutation, c.362dupC, p.(Glu122Argfs*7). He had no mutations in\n                      <jats:italic>COL3A1<\/jats:italic>\n                      ,\n                      <jats:italic>ACTA2<\/jats:italic>\n                      ,\n                      <jats:italic>TGFBR1<\/jats:italic>\n                      ,\n                      <jats:italic>TGFBR2<\/jats:italic>\n                      , or\n                      <jats:italic>SMAD3<\/jats:italic>\n                      . The\n                      <jats:italic>FKBP14<\/jats:italic>\n                      mutations in our patient occurred on the same haplotype as others with this same mutation. Although one family member in a previous report was thought to have early vascular complications, it could not be confirmed that she had biallelic mutations in\n                      <jats:italic>FKBP14<\/jats:italic>\n                      . This report expands the phenotype of\n                      <jats:italic>FKBP14<\/jats:italic>\n                      \u2010related EDS to include risk for vascular complications and also raises the question of whether the shared haplotype represents a risk allele or founder mutation. \u00a9 2014 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36492","type":"journal-article","created":{"date-parts":[[2014,3,26]],"date-time":"2014-03-26T13:48:30Z","timestamp":1395841710000},"page":"1750-1755","source":"Crossref","is-referenced-by-count":21,"title":["<i>FKBP14<\/i>\n                    \u2010related Ehlers\u2010Danlos syndrome: Expansion of the phenotype to include vascular complications"],"prefix":"10.1002","volume":"164","author":[{"given":"Mitzi L.","family":"Murray","sequence":"first","affiliation":[{"name":"Department of Pathology University of Washington Seattle Washington"},{"name":"Department of Medicine (Medical Genetics) University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Fauth","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Innsbruck Medical University Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter H.","family":"Byers","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Washington Seattle Washington"},{"name":"Department of Medicine (Medical Genetics) University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,3,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.004"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/skinbio.2012.3"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/gbe\/evq023"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.081356"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36492","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36492","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36492","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T19:32:30Z","timestamp":1696534350000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36492"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3,26]]},"references-count":5,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2014,7]]}},"alternative-id":["10.1002\/ajmg.a.36492"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36492","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,3,26]]}}}