{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T02:04:21Z","timestamp":1789524261170,"version":"build-2803163510"},"reference-count":10,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T00:00:00Z","timestamp":1376611200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Dr. Reinstein's Rambam Atidim Academic Excellence Program"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>The criteria for diagnosing and distinguishing between Weill\u2013Marchesani syndrome (WMS) and geleophysic dysplasia (GD) are inexact and often overlap. We report the clinical findings and evolving phenotype for a period of 18 years in a patient whose diagnosis, and distinguishing characteristics, transformed from GD to WMS. Molecular testing demonstrated novel mutations in the <jats:italic>ADAMTS10<\/jats:italic> gene confirming a diagnosis of autosomal recessive WMS in the proposita. We further report on phenotypic features not classically linked to WMS. These findings indicate that the Weill\u2013Marchesani phenotype may be developed and is not always apparent in early childhood. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36161","type":"journal-article","created":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T17:30:56Z","timestamp":1376674256000},"page":"3126-3129","source":"Crossref","is-referenced-by-count":15,"title":["More than meets the eye: The evolving phenotype of Weill\u2013Marchesani syndrome\u2014diagnostic confusion with geleophysic dysplasia"],"prefix":"10.1002","volume":"161","author":[{"given":"Allen L.","family":"Pimienta","sequence":"first","affiliation":[{"name":"Faculty of Medicine Technion\u2010Israel Institute of Technology Haifa Israel"},{"name":"Medical Genetics Institute Rambam Health Care Campus Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William R.","family":"Wilcox","sequence":"additional","affiliation":[{"name":"Medical Genetics Institute Cedars\u2010Sinai Medical Center Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eyal","family":"Reinstein","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Technion\u2010Israel Institute of Technology Haifa Israel"},{"name":"Medical Genetics Institute Rambam Health Care Campus Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,8,16]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.087544"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0048634"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/425231"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20289"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.231571"},{"key":"e_1_2_5_7_1","first-page":"418","article-title":"Genetic and molecular aspects of acromelic dysplasia","volume":"6","author":"Le Goff C","year":"2009","journal-title":"Pediatr Endocrinol Rev"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.199"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.012"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.09.011"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2006.03.050"}],"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.36161","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36161","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36161","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T10:16:09Z","timestamp":1694686569000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36161"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,16]]},"references-count":10,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["10.1002\/ajmg.a.36161"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36161","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8,16]]}}}