{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:28Z","timestamp":1786976788073,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,4,1]],"date-time":"2003-04-01T00:00:00Z","timestamp":1049155200000},"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":[[2003,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We report two patients with Beare\u2010Stevenson syndrome. This syndrome presents craniosynostosis with or without clover\u2010leaf skull, craniofacial anomalies, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, genital and anal anomalies. Both female newborn patients presented at birth with craniofacial anomalies, variable cutis gyrata in forehead and preauricular regions, prominent umbilical stump and anogenital anomalies. Furrowed palms and soles were also observed. The radiologic examination showed a cloverleaf\u2010form craniosynostosis. Chromosomes were normal. They were born with respiratory distress and were connected to mechanical ventilation for ventilatory support. Both of them died in 50 days after birth due to secondary complications. The molecular analysis of these patients identified the mutation Tyr375Cys in the\n                    <jats:italic>FGFR2<\/jats:italic>\n                    gene. \u00a9 2003 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.20101","type":"journal-article","created":{"date-parts":[[2003,7,31]],"date-time":"2003-07-31T06:15:55Z","timestamp":1059632155000},"page":"41-46","source":"Crossref","is-referenced-by-count":23,"title":["Beare\u2010Stevenson syndrome: Two south american patients with\n                    <i>FGFR2<\/i>\n                    analysis"],"prefix":"10.1002","volume":"121A","author":[{"given":"Rosa Andrea Pardo","family":"Vargas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gustavo Henrique Boff","family":"Maegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia Castillo","family":"Taucher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00falio C\u00e9sar L.","family":"Leite","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Sanz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Cifuentes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauro","family":"Parra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hern\u00e1n","family":"Mu\u00f1oz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos Magno","family":"Maranduba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria R.","family":"Passos\u2010Bueno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,4]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0007-1226(93)90053-E"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1969.tb13975.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050118"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440120"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.136"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0387-7604(96)00020-4"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980401)76:4<362::AID-AJMG15>3.0.CO;2-M"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980707)78:3<237::AID-AJMG5>3.0.CO;2-M"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(62)80100-0"},{"key":"e_1_2_6_12_1","doi-asserted-by":"crossref","unstructured":"PrzylepaKA PaznekasW zhangM GolabiM BiasW BamshadMJ CareyJC HallBD StevensonR OrlowSJ CohenMMJr JabsEW.1996.Fibroblast growth factor receptor 2 mutations in Beare\u2010Stevenson cutis gyrata syndrome. Nat Genet13:492\u2013494.","DOI":"10.1038\/ng0896-492"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1369"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80371-0"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610309.x"}],"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.20101","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20101","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T15:58:06Z","timestamp":1700150286000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20101"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,4]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,8,15]]}},"alternative-id":["10.1002\/ajmg.a.20101"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20101","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,4]]}}}