{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T18:00:35Z","timestamp":1790618435885,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,8,17]],"date-time":"2025-08-17T00:00:00Z","timestamp":1755388800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,8,17]],"date-time":"2025-08-17T00:00:00Z","timestamp":1755388800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Myhre syndrome is a rare connective tissue disorder characterized by skeletal, cardiopulmonary, dermatologic, neurocognitive changes, and a predisposition to exaggerated fibrosis in response to mechanical stress. We report monozygotic male twins with Myhre syndrome caused by the recurrent\n                    <jats:italic>SMAD4<\/jats:italic>\n                    gain\u2010of\u2010function variant c.1498A&gt;G (p.Ile500Val), identified by targeted next\u2010generation sequencing of peripheral blood. Proband 1 presented at age 37\u2009years for evaluation of symptomatic aortic stenosis. Clinical recognition of Myhre syndrome prompted deferral of transesophageal echocardiography, and molecular diagnosis informed subsequent conservative management. His co\u2010twin, Proband 2, underwent posterior pharyngeal flap surgery and right\u2010heart catheterization with pulmonary artery stenting in childhood; later, he developed progressive pulmonary arterial hypertension and died at 31\u2009years. We report on the differing outcomes of the twins and the possibility that invasive airway and cardiac procedures may have accelerated fibro\u2010proliferative complications of Proband 2. Early recognition of Myhre syndrome allows selection of alternatives to high\u2010risk procedures, longitudinal monitoring, and may reduce morbidity and mortality.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.c.32150","type":"journal-article","created":{"date-parts":[[2025,8,18]],"date-time":"2025-08-18T03:34:22Z","timestamp":1755488062000},"page":"283-289","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Cardio\u2010Respiratory Complications in Adult Monozygotic Twins With Myhre Syndrome"],"prefix":"10.1002","volume":"199","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6508-8304","authenticated-orcid":false,"given":"Hyoungjun","family":"Sim","sequence":"first","affiliation":[{"name":"School of Medicine University of North Carolina  Chapel Hill North Carolina 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USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,8,17]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.084822"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62645"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36544"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.011"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12436"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010023\u201003007\u20107"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201508\u20101638OC"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431\u2010016\u20102761\u20103"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1124287"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1016"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37739"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63638"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIR.0000000000000682"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.1981.tb01798.x"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjoto.2015.04.005"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.2174\/092986712803414286"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35892"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.283"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2007.09.006"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63984"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37273"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1177\/10935266221079569"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010024\u201001664\u20101"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/intbio\/zyaa015"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/stem.2943"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010022\u201002447\u2010x"}],"container-title":["American 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