{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:33:40Z","timestamp":1760747620771,"version":"build-2065373602"},"reference-count":6,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,10]]},"DOI":"10.1136\/jmg.31.10.820-a","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"820.2-820","source":"Crossref","is-referenced-by-count":1,"title":["Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis syndrome."],"prefix":"10.1136","volume":"31","author":[{"given":"J M","family":"Saraiva","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H C","family":"Mota","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1136\/jmg.31.1.62","article-title":"Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review","volume":"31","author":"Horslen, S.P.; Quarrell, O.W.J.; Tanner, M.S.","year":"1994","unstructured":"Horslen SP, Quarrell OWJ, Tanner MS. Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. J Med Genet 1994;31:62-4.","journal-title":"J Med Genet"},{"key":"ref_2","first-page":"1","article-title":"Familiare Gallengangsmissbildungen mit tubularer Niereninsuffizienz","volume":"28","author":"Lutz-Richner, A.R.; Landolt, R.F.","year":"1973","unstructured":"Lutz-Richner AR, Landolt RF. Familiare Gallengangsmissbildungen mit tubularer Niereninsuffizienz. Helv Paediatr Acta 1973;28: 1-12.","journal-title":"Helv Paediatr Acta"},{"key":"ref_3","first-page":"463","article-title":"Renal tubular insufficiency, cholestatic jaundice and multiple congenital anomalies a new multisystem syndrome","volume":"39","author":"Mikati, M.A.; Barakat, A.Y.; Sulh, H.B.; Der Kaloustian, V.M.","year":"1984","unstructured":"Mikati MA, Barakat AY, Sulh HB, Der Kaloustian VM. Renal tubular insufficiency, cholestatic jaundice and multiple congenital anomalies a new multisystem syndrome. Helv Paediatr Acta 1984;39:463-71.","journal-title":"Helv Paediatr Acta"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1016\/S0022-3476(79)80839-2","article-title":"A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction, and a cholestatic and pigmentary liver disease","volume":"94","author":"Nezelof, C.; Dupart, M.C.; Jaubert, F.; Eliachar, E.","year":"1979","unstructured":"Nezelof C, Dupart MC, Jaubert F, Eliachar E. A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction, and a cholestatic and pigmentary liver disease. J Pediatr 1979;94:258-60.","journal-title":"J Pediatr"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1002\/ajmg.1320370214","article-title":"cholestatic pigmentary liver disease and renal dysfunction: report of a second family","volume":"37","author":"M, Di Rocco; E, Reboa; A, Barabino","year":"1990","unstructured":"Di Rocco M, Reboa E, Barabino A, et al. Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family. Am J Med Genet 1990;37:237-40.","journal-title":"Am J Med Genet"},{"key":"ref_6","first-page":"761","article-title":"Arthrogryposis multiplex congenita with renal and hepatic abnormalities in a female infant","volume-title":"I Pediatr","volume":"117","author":"Saraiva, J.M.; Lemos, C.; Gonralves, I.; Carneiro, F.; Mota, H.C.","year":"1990","unstructured":"Saraiva JM, Lemos C, Gonralves I, Carneiro F, Mota HC. Arthrogryposis multiplex congenita with renal and hepatic abnormalities in a female infant. I Pediatr 1990;117:761-3."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.31.10.820-a","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:57:59Z","timestamp":1760727479000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.31.10.820-a"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,10]]},"references-count":6,"journal-issue":{"issue":"10","published-online":{"date-parts":[[1994,10,1]]},"published-print":{"date-parts":[[1994,10]]}},"alternative-id":["10.1136\/jmg.31.10.820-a"],"URL":"https:\/\/doi.org\/10.1136\/jmg.31.10.820-a","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1994,10]]}}}