{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T17:15:41Z","timestamp":1788282941192,"version":"build-2803163510"},"reference-count":9,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,4,22]],"date-time":"2013-04-22T00:00:00Z","timestamp":1366588800000},"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":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Myhre syndrome is a rare disorder characterized by pre\u2010 and postnatal short stature, brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular\u2010appearing body build, decreased joint mobility, mixed hearing loss, and cleft lip and palate. Other clinical features include skeletal dysplasia, developmental delay with intellectual disability and\/or behavioral disturbance, cardiac defects, cryptorchidism, and bone anomalies. The disease is caused by recently identified <jats:italic>SMAD4<\/jats:italic> mutations. Here we describe a 7\u2010year\u2010old boy with a molecularly proven Myhre syndrome who presented life\u2010threatening recurrent pericarditis and systemic inflammatory symptoms that required treatment with steroid and recombinant interleukin\u20101 receptor antagonist.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35892","type":"journal-article","created":{"date-parts":[[2013,4,23]],"date-time":"2013-04-23T03:09:12Z","timestamp":1366686552000},"page":"1164-1166","source":"Crossref","is-referenced-by-count":28,"title":["Recurrent Pericarditis in Myhre Syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Paolo","family":"Picco","sequence":"first","affiliation":[{"name":"Pediatria II, G. Gaslini Istitute and University of Genoa Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aldo","family":"Naselli","sequence":"additional","affiliation":[{"name":"Pediatria II, G. Gaslini Istitute and University of Genoa Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Pala","sequence":"additional","affiliation":[{"name":"Pediatria II, G. Gaslini Istitute and University of Genoa Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Marsciani","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Rimini Hospital Rimini Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Buoncompagni","sequence":"additional","affiliation":[{"name":"Pediatria II, G. Gaslini Istitute and University of Genoa Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Martini","sequence":"additional","affiliation":[{"name":"Pediatria II, G. Gaslini Istitute and University of Genoa Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,4,22]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.7.546"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981116)80:3<241::AID-AJMG12>3.0.CO;2-#"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1016"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32719"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10316"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35374"},{"key":"e_1_2_5_8_1","first-page":"553","article-title":"Clinical features and respiratory complications in Myhre syndrome","volume":"54","author":"McGowan R","year":"2011","journal-title":"Eur J Med Genet"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb01798.x"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.24174"}],"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.35892","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35892","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T01:31:00Z","timestamp":1698629460000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35892"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,22]]},"references-count":9,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["10.1002\/ajmg.a.35892"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35892","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4,22]]}}}