{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T19:47:12Z","timestamp":1762458432016},"reference-count":2,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4436,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on 2 brothers with a severe progressive disorder characterized by thick skin, acne conglobata, \u201ccoarse\u201d face, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. The youngest brother died at age 24 years because of heart failure. Biochemical and pathological studies excluded known metabolic diseases.<\/jats:p><jats:p>We think that this is a new genetic disorder inherited in autosomal recessive or X\u2010linked recessive manner. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320460225","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:50:25Z","timestamp":1118508625000},"page":"228-234","source":"Crossref","is-referenced-by-count":21,"title":["New multisystemic disorder involving heart valves, skin, bones, and joints in two brothers"],"prefix":"10.1002","volume":"46","author":[{"given":"C.","family":"Borrone","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Di Rocco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Crovato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Camera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Gambini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"1349","volume-title":"Pachydermoperiostis","author":"Borochowitz Z","year":"1990"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260119"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320460225","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320460225","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T04:27:19Z","timestamp":1698208039000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320460225"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,4,15]]},"references-count":2,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1993,4,15]]}},"alternative-id":["10.1002\/ajmg.1320460225"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320460225","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,4,15]]}}}