{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:43:39Z","timestamp":1790516619181,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2018,9,8]],"date-time":"2018-09-08T00:00:00Z","timestamp":1536364800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>Geleophysic dysplasia is a rare skeletal dysplasia often complicated by progressive cardiac disease. Information about long\u2010term outcomes is limited. A clinical update of the oldest surviving patient described with geleophysic dysplasia type 1 is provided. Special note is made in relation to the cardiac disease and interventions. Genetic testing of <jats:italic>ADAMTSL2<\/jats:italic> revealed a previously reported missense mutation as well as a novel nonsense mutation, which can be added to the list of causative mutations in geleophysic dysplasia.<\/jats:p>","DOI":"10.1002\/ajmg.a.40377","type":"journal-article","created":{"date-parts":[[2018,9,8]],"date-time":"2018-09-08T15:13:04Z","timestamp":1536419584000},"page":"2237-2242","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6684-4909","authenticated-orcid":false,"given":"Janet M.","family":"Legare","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Wisconsin School of Medicine and Public Health  Madison Wisconsin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peggy","family":"Modaff","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Wisconsin School of Medicine and Public Health  Madison Wisconsin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3254-7564","authenticated-orcid":false,"given":"Samuel P.","family":"Strom","sequence":"additional","affiliation":[{"name":"Fulgent Genetics  Temple City California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3471-5154","authenticated-orcid":false,"given":"Richard M.","family":"Pauli","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Wisconsin School of Medicine and Public Health  Madison Wisconsin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4224-6151","authenticated-orcid":false,"given":"Heather L.","family":"Bartlett","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Wisconsin School of Medicine and Public Health  Madison Wisconsin"},{"name":"Department of Medicine University of Wisconsin School of Medicine and Public Health  Madison Wisconsin"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,9,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.087544"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36044"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951113001753"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1179\/146532808X302206"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-011-0780-9"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2015.05.004"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36147"},{"key":"e_1_2_8_9_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Le Goff C","year":"2009"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31337"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.012"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.199"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.09.003"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103647"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.94.11.2708"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<50::AID-AJMG11>3.0.CO;2-T"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.2350\/13-08-1370-CR.1"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.4103\/0301-4738.104401"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30450"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80534-7"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780195396089.001.0001"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190310"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(71)92073-3"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1536\/ihj.16-094"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990903)86:1<82::AID-AJMG16>3.0.CO;2-O"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.21.1.80"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2003.07.007"}],"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.40377","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.40377","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T13:14:12Z","timestamp":1694697252000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.40377"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9,8]]},"references-count":26,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2018,11]]}},"alternative-id":["10.1002\/ajmg.a.40377"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.40377","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,9,8]]},"assertion":[{"value":"2018-03-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-06-03","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-09-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}