{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T15:06:28Z","timestamp":1758812788605},"reference-count":8,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2017,6,10]],"date-time":"2017-06-10T00:00:00Z","timestamp":1497052800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Skeletal Radiol"],"published-print":{"date-parts":[[2017,9]]},"DOI":"10.1007\/s00256-017-2684-8","type":"journal-article","created":{"date-parts":[[2017,6,10]],"date-time":"2017-06-10T15:15:26Z","timestamp":1497107726000},"page":"1297-1300","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Autosomal dominant brachyolmia: transient metaphyseal striations"],"prefix":"10.1007","volume":"46","author":[{"given":"Yun-Jung","family":"Lim","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hye-Ran","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ok-Hwa","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tae-Joon","family":"Cho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kun-Bo","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,6,10]]},"reference":[{"key":"2684_CR1","doi-asserted-by":"publisher","first-page":"1635","DOI":"10.1002\/ajmg.a.36502","volume":"164","author":"G Grigelioniene","year":"2014","unstructured":"Grigelioniene G, Geiberger S, Horemuzova E, Mostr\u00f6m E, J\u00e4ntti N, Neumeyer L, et al. Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. Am J med Genet Part a. 2014;164:1635\u201341. doi:\n10.1002\/ajmg.a.36502\n\n.","journal-title":"Am J med Genet Part a."},{"issue":"11","key":"2684_CR2","doi-asserted-by":"publisher","first-page":"1557","DOI":"10.1007\/s00256-016-2458-8","volume":"45","author":"A Handa","year":"2016","unstructured":"Handa A, Tham E, Wang Z, Horemuzova E, Grigelioniene G. Autosomal recessive brachyolmia: early radiological findings. Skelet Radiol. 2016;45(11):1557\u201360. doi:\n10.1007\/s00256-016-2458-8\n\n.","journal-title":"Skelet Radiol"},{"key":"2684_CR3","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1007\/s00247-011-2229-6","volume":"42","author":"SF Nemec","year":"2012","unstructured":"Nemec SF, Cohn DH, Krakow D, Funari VA, Rimoin DL, Lachman RS. The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). Pediatr Radiol. 2012;42:15\u201323. doi:\n10.1007\/s00247-011-2229-6\n\n.","journal-title":"Pediatr Radiol"},{"issue":"8","key":"2684_CR4","doi-asserted-by":"publisher","first-page":"999","DOI":"10.1038\/ng.166","volume":"40","author":"MJ Rock","year":"2008","unstructured":"Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, et al. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet. 2008;40(8):999\u20131003. doi:\n10.1038\/ng.166\n\n.","journal-title":"Nat Genet"},{"key":"2684_CR5","first-page":"209","volume":"33","author":"M Shohat","year":"1989","unstructured":"Shohat M, Lachman R, Gruber HE, Rimoin DL. Brachyolmia: radiographic and genetic evidence of heterogeneity. Am J med. 1989;33:209\u201319.","journal-title":"Am J med"},{"key":"2684_CR6","doi-asserted-by":"publisher","first-page":"704","DOI":"10.1136\/jmg.2009.075358","volume":"47","author":"J Dai","year":"2010","unstructured":"Dai J, Kim O-H, Cho T-J, Schmidt-Rimpler M, Tonoki H, Takikawa K, et al. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J med Genet. 2010;47:704\u20139. doi:\n10.1136\/jmg.2009.075358\n\n.","journal-title":"J med Genet"},{"issue":"3","key":"2684_CR7","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1002\/ajmg.c.31335","volume":"160 C","author":"G Nishimura","year":"2012","unstructured":"Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, et al. TRPV4-associated skeletal dysplasias. Am J med Genet Part C Semin med Genet. 2012;160 C(3):190\u2013204. doi:\n10.1002\/ajmg.c.31335\n\n.","journal-title":"Am J med Genet Part C Semin med Genet"},{"issue":"6","key":"2684_CR8","doi-asserted-by":"publisher","first-page":"1443","DOI":"10.1002\/ajmg.a.33414","volume":"152A","author":"G Nishimura","year":"2010","unstructured":"Nishimura G, Dai J, Lausch E, Unger S, Megarban\u00e9 A, Kitoh H, et al. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Am J med Genet Part a. 2010;152A(6):1443\u20139. doi:\n10.1002\/ajmg.a.33414\n\n.","journal-title":"Am J med Genet Part a"}],"container-title":["Skeletal Radiology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00256-017-2684-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00256-017-2684-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00256-017-2684-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,7,20]],"date-time":"2017-07-20T03:25:17Z","timestamp":1500521117000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00256-017-2684-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6,10]]},"references-count":8,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2017,9]]}},"alternative-id":["2684"],"URL":"https:\/\/doi.org\/10.1007\/s00256-017-2684-8","relation":{},"ISSN":["0364-2348","1432-2161"],"issn-type":[{"value":"0364-2348","type":"print"},{"value":"1432-2161","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,6,10]]}}}