{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T06:08:17Z","timestamp":1791266897899,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,17]],"date-time":"2005-06-17T00:00:00Z","timestamp":1118966400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2005,8]]},"abstract":"<jats:p>We identified a family with 10 affected members in four generations suffering from adult\u2010onset progressive sinoatrial and atrioventricular conduction disease, sudden death due to ventricular tachyarrhythmia, dilated cardiomyopathy, and a unique type of brachydactyly with mild hand involvement (short distal, middle, proximal phalanges and clinodactyly) and more severe foot involvement (short distal, proximal phalanges and metatarsal bones, short or absent middle phalanges, terminal symphalangism, duplication of the bases of the second metatarsals, extra ossicles, and syndactyly). The phenotype differences from other reported genetic abnormalities and linkage exclusion of Holt\u2013Oram syndrome, ulnar\u2013mammary syndrome, brachydactyly type B or Robinow syndrome, and cardiac conduction disease or Brugada syndrome loci suggest that we report on a new hereditary heart\u2010hand syndrome.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2005.00476.x","type":"journal-article","created":{"date-parts":[[2005,7,1]],"date-time":"2005-07-01T17:54:21Z","timestamp":1120240461000},"page":"155-160","source":"Crossref","is-referenced-by-count":19,"title":["Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart\u2010hand syndrome?"],"prefix":"10.1111","volume":"68","author":[{"given":"M","family":"\u0160inkovec","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Petrovi\u010d","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Volk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Peterlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,17]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0894-546"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(98)00424-0"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199912023412302"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980401)76:4<297::AID-AJMG4>3.0.CO;2-N"},{"key":"e_1_2_6_6_2","first-page":"1","article-title":"On brachydactyly and symphalangism: introduction and classification of cases","volume":"5","author":"Bell J","year":"1951","journal-title":"Treas Hum Inherit"},{"key":"e_1_2_6_7_2","first-page":"241","article-title":"The genetics of hand malformations","volume":"14","author":"Temtamy SA","year":"1978","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03556.x"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00329125"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320080103"},{"key":"e_1_2_6_11_2","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1067\/mje.2002.121536","article-title":"Recommendations for a standardized report for adult transthoracic echocardiography: a report from American Society of Echocardiography's Nomenclature and Standards Committee and Task Force for a Standardized Echocardiography Report","volume":"15","author":"Gardin JM","year":"2002","journal-title":"J Am Soc Echocardiogr"},{"key":"e_1_2_6_12_2","volume-title":"Handbook of normal physical measurements","author":"Hall JG","year":"1989"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.11.3443"},{"key":"e_1_2_6_14_2","first-page":"307","volume-title":"Handbook for human genetic linkage.","author":"Terwilliger J","year":"1994"},{"key":"e_1_2_6_15_2","first-page":"325","article-title":"Idiopathic familial atrial cardiomyopathy with diffuse conduction block","volume":"71","author":"Stables RH","year":"1989","journal-title":"Q J Med"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.1.36"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.91.5.1326"},{"key":"e_1_2_6_18_2","first-page":"21","article-title":"Mutations in humans cause limb and cardiac malformations in Holt\u2010Oram syndrome","volume":"15","author":"Basson CT","year":"1997","journal-title":"Nat Genet"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-243"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-311"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1086\/302249"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/73495"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/0735-1097(92)90253-J"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1038\/12618"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2005.00476.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2005.00476.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T23:30:31Z","timestamp":1696894231000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2005.00476.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,6,17]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,8]]}},"alternative-id":["10.1111\/j.1399-0004.2005.00476.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2005.00476.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,6,17]]}}}