{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T14:24:49Z","timestamp":1774448689662,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4875,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on 2 sisters with hypoplastic right heart and pulmonary atresia. The first sib was found to have pulmonary atresia, intact ventricular septum, and hypoplastic right heart after delivery. Fetal echocardiography at 22 weeks of gestation during the second pregnancy documented the same cardiac abnormalities. Autopsy findings in the fetus confirmed the echocardiographic findings. No other malformations were detected in either case, and no other affected relatives were identified. We suggest that this rare congenital heart defect may, in some cases, be an autosomal recessive trait.<\/jats:p>","DOI":"10.1002\/ajmg.1320420308","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:33:16Z","timestamp":1118550796000},"page":"304-306","source":"Crossref","is-referenced-by-count":26,"title":["Pulmonary atresia with intact ventricular septum and hypoplastic right heart in sibs: A single gene disorder?"],"prefix":"10.1002","volume":"42","author":[{"given":"David","family":"Chitayat","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"McIntosh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Claude","family":"Fouron","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1980.02130170056019"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.aje.a113979"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(89)80605-5"},{"key":"e_1_2_1_5_1","first-page":"375","article-title":"Report of the New England regional infant cardiac program","volume":"65","author":"Fyler DC","year":"1980","journal-title":"Pediatrics"},{"key":"e_1_2_1_6_1","first-page":"554","volume-title":"Fetal And Neonatal Cardiology","author":"Gutgessel HP","year":"1990"},{"key":"e_1_2_1_7_1","first-page":"168A","article-title":"Prognosis for the neonate and infant with congenital heart disease","volume":"2","author":"Gutgesell HP","year":"1982","journal-title":"Pediatr Cardiol"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1978.02120310064013"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.43.3.323"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1542\/peds.37.2.329","article-title":"Familial nature of congenital heart disease","volume":"37","author":"Nora JJ","year":"1966","journal-title":"Pediatrics"},{"key":"e_1_2_1_11_1","first-page":"91","volume-title":"Progress in Medical Genetics","author":"Nora JJ","year":"1983"},{"key":"e_1_2_1_12_1","first-page":"455","volume-title":"The Child With Congenital Heart Disease After Surgery","author":"Nora JJ","year":"1976"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(61)90222-4"},{"key":"e_1_2_1_14_1","first-page":"119","volume-title":"Congenital Malformations of the Heart,\u201d","author":"Taussig HB","year":"1960"},{"key":"e_1_2_1_15_1","first-page":"105","volume-title":"The Child With Congenital Heart Disease After Surgery","author":"Van Praagh R","year":"1976"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.41.3.281"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320420308","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320420308","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T06:08:52Z","timestamp":1698127732000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320420308"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,2]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1992,2]]}},"alternative-id":["10.1002\/ajmg.1320420308"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320420308","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,2]]}}}