{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T13:32:24Z","timestamp":1770903144981,"version":"3.50.1"},"reference-count":9,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,4]]},"abstract":"<jats:p>Five members in three generations of a family were affected by a congenital heart disease. Four of them had mild or severe coarctation of the aorta (CoA), either isolated or in association with other cardiac defects. Fetal echocardiography allowed prenatal diagnosis in one pregnancy at risk. This family suggests that a rare form of CoA could be the result of an autosomal dominant mutation with high penetrance and variable expressivity rather than polygenic inheritance.<\/jats:p>","DOI":"10.1136\/jmg.30.4.328","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"328-329","source":"Crossref","is-referenced-by-count":22,"title":["Coarctation of the aorta, interrupted aortic arch, and hypoplastic left heart syndrome in three generations."],"prefix":"10.1136","volume":"30","author":[{"given":"S","family":"Gerboni","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Sabatino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Mingarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1016\/0002-9149(85)91156-7","article-title":"Coarctation of the aorta inherited as an autosomal dominant trait","volume":"56","author":"Beekman, R.H.; Robinow, M.","year":"1985","unstructured":"Beekman RH, Robinow M. Coarctation of the aorta inherited as an autosomal dominant trait. AmJ Cardiol 1985;56:818-9.","journal-title":"AmJ Cardiol"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/S0140-6736(61)90055-1","article-title":"The aetiology of coarctation of the aorta","volume":"i:","author":"Campbell, M.; Polani, P.E.","year":"1961","unstructured":"Campbell M, Polani PE. The aetiology of coarctation of the aorta. Lancet 1961;i:463-8.","journal-title":"Lancet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1136\/jmg.13.6.420","article-title":"A family study of coarctation of the aorta","volume":"13","author":"Boon, A.R.; Roberts, D.F.","year":"1976","unstructured":"Boon AR, Roberts DF. A family study of coarctation of the aorta. J Med Genet 1976;13:420-3.","journal-title":"J Med Genet"},{"key":"ref_4","article-title":"A clinical and genetic study of congenital heart defects","author":"Zetterquist, P.","year":"1972","unstructured":"Zetterquist P. A clinical and genetic study of congenital heart defects. Thesis, Institute of Medical Genetics, University of Uppsala, Sweden, 1972."},{"key":"ref_5","article-title":"Cardiovascular diseases. Genetics, epidemiology and prevention","author":"Nora, J.J.; Berg, K.; Nora, A.H.","year":"1991","unstructured":"Nora JJ, Berg K, Nora AH. Cardiovascular diseases. Genetics, epidemiology and prevention. New York: Oxford University Press, 1991."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1002\/ajmg.1320430423","article-title":"Familial aplasia cutis congenita and coarctation of the aorta","volume":"43","author":"Dallapiccola, B.; Giannotti, A.; Marino, B.; Digilio, C.; Obregon, G.","year":"1992","unstructured":"Dallapiccola B, Giannotti A, Marino B, Digilio C, Obregon G. Familial aplasia cutis congenita and coarctation of the aorta. Am J Med Genet 1992;43:762-3.","journal-title":"Am J Med Genet"},{"key":"ref_7","first-page":"1492","article-title":"Cardiac malformations in relatives of infants with hypoplastic left-heart syndrome","volume":"143","author":"Brenner, J.I.; Berg, K.A.; Schneider, D.S.; Clark, E.B.; Boughman, J.A.","year":"1989","unstructured":"Brenner JI, Berg KA, Schneider DS, Clark EB, Boughman JA. Cardiac malformations in relatives of infants with hypoplastic left-heart syndrome. Am J Dis Child 1989;143:1492-4.","journal-title":"Am J Dis Child"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1136\/hrt.66.4.308","article-title":"DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22ql1 deletion of maternal origin","volume":"66","author":"Wilson, D.I.; Cross, I.E.; Goodship, J.A.","year":"1991","unstructured":"Wilson DI, Cross IE, Goodship JA, et al. DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22ql1 deletion of maternal origin. Br Heart J 1991;66:308-12.","journal-title":"Br Heart J"},{"issue":"1","key":"ref_9","article-title":"Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus","volume":"339","author":"Scambler, P.J.; Kelly, D.; Lindsay, E.","year":"1992","unstructured":"Scambler PJ, Kelly D, Lindsay E, et al. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet 1992;339:1 1389.","journal-title":"Lancet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.30.4.328","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:21:04Z","timestamp":1760775664000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.30.4.328"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,4]]},"references-count":9,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1993,4,1]]},"published-print":{"date-parts":[[1993,4]]}},"alternative-id":["10.1136\/jmg.30.4.328"],"URL":"https:\/\/doi.org\/10.1136\/jmg.30.4.328","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,4]]}}}