{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T10:35:38Z","timestamp":1768818938199,"version":"3.49.0"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2014,12,1]],"date-time":"2014-12-01T00:00:00Z","timestamp":1417392000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2014,12]]},"DOI":"10.1186\/1752-1947-8-471","type":"journal-article","created":{"date-parts":[[2015,6,18]],"date-time":"2015-06-18T07:22:45Z","timestamp":1434612165000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report"],"prefix":"10.1186","volume":"8","author":[{"given":"Ilham","family":"Ratbi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nawfal","family":"Fejjal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"Legendre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Collot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serge","family":"Amselem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdelaziz","family":"Sefiani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,12,29]]},"reference":[{"key":"3059_CR1","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1542\/peds.41.2.503","volume":"41","author":"RJ Gorlin","year":"1968","unstructured":"Gorlin RJ, Sedano HO, Cervenka J: Popliteal pterygium syndrome. A syndrome comprising cleft lip palate, popliteal and intercrural pterygia, digital and genital anomalies. Pediatrics. 1968, 41: 503-509.","journal-title":"Pediatrics"},{"key":"3059_CR2","doi-asserted-by":"crossref","first-page":"2535","DOI":"10.1002\/ajmg.a.36133","volume":"161","author":"EJ Leslie","year":"2013","unstructured":"Leslie EJ, Mancuso JL, Schutte BC, Cooper ME, Durda KM, L'heureux J, Zucchero TM, Marazita ML, Murray JC: Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes. Am J Med Genet A. 2013, 161: 2535-2544.","journal-title":"Am J Med Genet A"},{"key":"3059_CR3","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1136\/jmg.9.2.222","volume":"9","author":"CS Bartsocas","year":"1972","unstructured":"Bartsocas CS, Papas CV: Popliteal pterygium syndrome. Evidence for a severe autosomal recessive form. J Med Genet. 1972, 9: 222-226. 10.1136\/jmg.9.2.222.","journal-title":"J Med Genet"},{"key":"3059_CR4","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1136\/jmg.27.5.320","volume":"27","author":"UG Froster-Iskenius","year":"1990","unstructured":"Froster-Iskenius UG: Polpliteal pterygium syndrome. J Med Genet. 1990, 27: 320-326. 10.1136\/jmg.27.5.320.","journal-title":"J Med Genet"},{"key":"3059_CR5","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/ng985","volume":"32","author":"S Kondo","year":"2002","unstructured":"Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC: Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet. 2002, 32: 285-289. 10.1038\/ng985.","journal-title":"Nat Genet"},{"key":"3059_CR6","doi-asserted-by":"publisher","first-page":"13710","DOI":"10.1073\/pnas.1110931108","volume":"108","author":"E Botti","year":"2011","unstructured":"Botti E, Spallone G, Moretti F, Marinari B, Pinetti V, Galanti S, De Meo PD, De Nicola F, Ganci F, Castrignan\u00f2 T, Pesole G, Chimenti S, Guerrini L, Fanciulli M, Blandino G, Karin M, Costanzo A: Developmental factor IRF6 exhibits tumor suppressor activity in squamous cell carcinomas. Proc Natl Acad Sci U S A. 2011, 108: 13710-13715. 10.1073\/pnas.1110931108.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"3059_CR7","doi-asserted-by":"publisher","first-page":"1261","DOI":"10.1038\/sj.ejhg.5201493","volume":"13","author":"M Peyrard-Janvid","year":"2005","unstructured":"Peyrard-Janvid M, Pegelow M, Koillinen H, Larsson C, Fransson I, Rautio J, Hukki J, Larson O, Karsten AL, Kere J: Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome. Eur J Hum Genet. 2005, 13: 1261-1267. 10.1038\/sj.ejhg.5201493.","journal-title":"Eur J Hum Genet"},{"key":"3059_CR8","doi-asserted-by":"publisher","first-page":"414","DOI":"10.1016\/j.tripleo.2003.12.034","volume":"98","author":"N Matsuzawa","year":"2004","unstructured":"Matsuzawa N, Yoshiura K, Machida J, Nakamura T, Niimi T, Furukawa H, Toyoda T, Natsume N, Shimozato K, Niikawa N: Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004, 98: 414-417. 10.1016\/j.tripleo.2003.12.034.","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol Endod"},{"key":"3059_CR9","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1097\/GIM.0b013e318197a49a","volume":"11","author":"RL de Lima","year":"2009","unstructured":"de Lima RL, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, Hehr U, Dixon MJ, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti-Ferreira D, Murray JC, Schutte BC: Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. Genet Med. 2009, 11: 241-247. 10.1097\/GIM.0b013e318197a49a.","journal-title":"Genet Med"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1752-1947-8-471.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1752-1947-8-471\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1752-1947-8-471","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1752-1947-8-471.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,9]],"date-time":"2024-06-09T15:34:34Z","timestamp":1717947274000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/1752-1947-8-471"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,12]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["3059"],"URL":"https:\/\/doi.org\/10.1186\/1752-1947-8-471","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,12]]},"assertion":[{"value":"5 September 2014","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 November 2014","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 December 2014","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"471"}}