{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T20:10:18Z","timestamp":1784146218191,"version":"3.55.0"},"reference-count":9,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,4,23]],"date-time":"2012-04-23T00:00:00Z","timestamp":1335139200000},"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":[[2012,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a patient with Noonan syndrome due to <jats:italic>SHOC2<\/jats:italic> missense mutation predicting p.Ser2Gly, recently described in association with Noonan syndrome. The male infant presented with fetal distress requiring premature delivery at 32 weeks and was noted to have dysmorphic features, edema, hepatosplenomegaly, leukocytosis, thrombocytopenia, and respiratory distress following birth. An echocardiogram revealed hypertrophic cardiomyopathy with left ventricular outflow tract obstruction. The infant's cardiac lesion rapidly progressed, and he was discharged home for palliative care. Clinical testing of genes causative of Noonan syndrome and related disorders detected the previously reported, pathogenic, de novo <jats:italic>SHOC2<\/jats:italic> missense mutation predicting p.Ser2Gly. The patient's cardiac findings and features were not typical for those individuals previously reported with this <jats:italic>SHOC2<\/jats:italic> mutation and thus expand the clinical phenotype. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35318","type":"journal-article","created":{"date-parts":[[2012,4,23]],"date-time":"2012-04-23T21:27:31Z","timestamp":1335216451000},"page":"1411-1413","source":"Crossref","is-referenced-by-count":31,"title":["Noonan syndrome due to a <i>SHOC2<\/i> mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant"],"prefix":"10.1002","volume":"158A","author":[{"given":"Rebecca","family":"Hoban","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy E.","family":"Roberts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurie","family":"Demmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reena","family":"Jethva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Shephard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,4,23]]},"reference":[{"key":"e_1_2_4_2_1","volume-title":"Gene reviews","author":"Allanson J","year":"2008"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.1.9"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(97)70273-7"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.425"},{"key":"e_1_2_4_6_1","first-page":"805","article-title":"Noonan syndrome in a premature infant with hypertrophic cardiomyopathy and death in infancy","volume":"97","author":"Gibson W","year":"2005","journal-title":"J Natl Med Assoc"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70088-0"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.1996.tb03445.x"},{"key":"e_1_2_4_9_1","unstructured":"OMIM.SHOC2: Suppressor of Clear C. Elegans Homolog of *602775."},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-4"}],"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.35318","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35318","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T14:25:32Z","timestamp":1697034332000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35318"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4,23]]},"references-count":9,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,6]]}},"alternative-id":["10.1002\/ajmg.a.35318"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35318","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,4,23]]}}}