{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T09:35:28Z","timestamp":1782207328962,"version":"3.54.5"},"reference-count":17,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,5,23]],"date-time":"2016-05-23T00:00:00Z","timestamp":1463961600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>Protein\u2010losing enteropathy is a primary or secondary manifestation of a group of conditions, and etiologies which are broadly divisible into those with mucosal injury on the basis of inflammatory and ulcerative conditions, mucosal injury without erosions or ulcerations, and lymphatic abnormalities. We describe the first case of protein\u2010losing enteropathy in a pediatric patient, with severe skeletal dysplasia consistent with thanatophoric dysplasia type I and DNA analysis that revealed a c.1949A&gt;T (p.Lys650Met) in exon 15 of the <jats:italic>FGFR3<\/jats:italic> gene. She presented with protein\u2010losing enteropathy in her 6th month. Post\u2010mortem examination revealed lymphangiectasia in the small intestine. To our knowledge, this is the first report of intestinal lymphangiectasia as a complication of skeletal dysplasia resulting in severe protein\u2010losing enteropathy. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37756","type":"journal-article","created":{"date-parts":[[2016,5,24]],"date-time":"2016-05-24T10:38:37Z","timestamp":1464086317000},"page":"2993-2997","source":"Crossref","is-referenced-by-count":3,"title":["Protein\u2010losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation"],"prefix":"10.1002","volume":"170","author":[{"given":"Chen","family":"Yang","sequence":"first","affiliation":[{"name":"Division of Anatomic and Molecular Pathology Department of Pathology and Immunology St. Louis Children's Hospital Washington University Medical Center St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louis P.","family":"Dehner","sequence":"additional","affiliation":[{"name":"Division of Anatomic and Molecular Pathology Department of Pathology and Immunology St. Louis Children's Hospital Washington University Medical Center St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,5,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970627)70:4<427::AID-AJMG18>3.0.CO;2-J"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35246"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12434"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2010.193912"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-010-1235-2"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00256-014-1983-6"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2014.04.025"},{"key":"e_1_2_6_9_1","first-page":"1752","volume-title":"Textbook of gastroenterology","author":"Levin MS","year":"1999"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330420"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1747-0803.2008.00201.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5223(98)70406-4"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.29"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11606-005-0238-6"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.healun.2005.08.016"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4757-9065-8_1"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/302275"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0016-5085(19)35130-3"}],"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.37756","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37756","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37756","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T03:13:22Z","timestamp":1696648402000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37756"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5,23]]},"references-count":17,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2016,11]]}},"alternative-id":["10.1002\/ajmg.a.37756"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37756","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,5,23]]}}}