{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:12:32Z","timestamp":1759687952750,"version":"build-2065373602"},"reference-count":5,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1985,8]]},"abstract":"<jats:p>The familial association of pulmonary stenosis, atrial septal defect, and unique electrocardiographic abnormalities involving a mother and two children is reported. Familial pulmonary stenosis not occurring as part of a named syndrome or without associated multiple congenital abnormalities is rare. The constellation of pulmonary stenosis, atrial septal defect, and the particular electrocardiogram abnormalities present here is to our knowledge previously unreported. The pattern of inheritance is consistent with an autosomal dominant mode of transmission.<\/jats:p>","DOI":"10.1136\/jmg.22.4.311","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"311-313","source":"Crossref","is-referenced-by-count":11,"title":["Familial pulmonary valve stenosis, atrial septal defect, and unique electrocardiogram abnormalities."],"prefix":"10.1136","volume":"22","author":[{"given":"A A","family":"Ciuffo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Cunningham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T A","family":"Traill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1985,8,1]]},"reference":[{"issue":"35 189","key":"ref_1","article-title":"inldcidlece of cardliilialforii ions at birth and laitcr, and neonatal mortalitv","volume":"1973","author":"Campbell, M.","unstructured":"Campbell M. inldcidlece of cardliilialforii ions at birth and laitcr, and neonatal mortalitv. Br Heart J 1973,35 189 -2100.","journal-title":"Br Heart J"},{"key":"ref_2","first-page":"15271","article-title":"Genetics of pulmionary stcnosis. Acto Cartliol 1972: 27: 316-30. McKeown T-MacMahon T. Parsons CG. The familial incidcncc ot conoeriltal malformations of the hcart","volume":"1953","author":"('ascos A, Sanchez","unstructured":"-Sanchez ('ascos A. Genetics of pulmionary stcnosis. Acto Cartliol 1972:27:316-30. McKeown T-MacMahon T. Parsons CG. The familial incidcncc ot conoeriltal malformations of the hcart. Br Hleairt J 1953j:15271-77 Scuainez 1.","journal-title":"Br Hleairt J; Scuainez 1"},{"key":"ref_3","first-page":"\"266","article-title":"Cardio-cutianCoLIs syrndronie (tthc LEOPARD ssrildonic). Review of the literature id a ncs famnily","volume":"9","author":"R, Nlanc-Garzon F.Kolski","year":"1976","unstructured":"Nlanc-Garzon F. Kolski R. Cardio-cutianCoLIs syrndronie (tthc LEOPARD ssrildonic). Review of the literature id a ncs famnily. (Cfin Geiet 1976:9:266--76. Caralls L). Char F. Grabhcr I). Voigt GC. Delineation of mIlultiple cardKic aInomialics associItcd with the Noonan svndronic in an idult and rcview of the literature. Joltis Hopkitns Met\/ J 1974:134:346-s5.","journal-title":"Joltis Hopkitns Met\/ J; Delineation of mIlultiple cardKic aInomialics associItcd with the Noonan svndronic in an idult and rcview of the literature"},{"key":"ref_4","first-page":"87","article-title":"A famriyls\\ith conocnital pulmionarv valve stclosis","volume":"21","author":"David, T.J.","year":"1974","unstructured":"David TJ. A famriyls\\ith conocnital pulmionarv valve stclosis. Iluatnogen(tik 1974:21 X87-8.","journal-title":"Iluatnogen(tik"},{"key":"ref_5","first-page":"273","article-title":"Pulmonarsy valivular obstruLCtion in grandfather and graindson","volume":"1965","author":"lB. Raippaport WJ, Robinson J.(C.IIull","unstructured":"Robinson J(C IIull lB. Raippaport WJ. Pulmonarsy valivular obstruLCtion in grandfather and graindson. N Etigl J Met! 1965:273:68(1-3.","journal-title":"N Etigl J Met!"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.22.4.311","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:47:29Z","timestamp":1759686449000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.22.4.311"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,8]]},"references-count":5,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1985,8,1]]},"published-print":{"date-parts":[[1985,8]]}},"alternative-id":["10.1136\/jmg.22.4.311"],"URL":"https:\/\/doi.org\/10.1136\/jmg.22.4.311","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1985,8]]}}}