{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T05:21:40Z","timestamp":1699852900967},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":10379,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1977,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a family in which 3 sisters gave birth to 8 infants with the Wiedemann\u2010 Beckwith syndrome. The clinical manifestations in all the affected individuals included macroglossia, macrosomia and omphalocele, while their mothers all were entirely normal. Pedigree analysis suggests that familial occurrence of the Wiedemann\u2010Beckwith syndrome may be due to delayed mutation.<\/jats:p>","DOI":"10.1002\/ajmg.1320010107","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:20:08Z","timestamp":1118496008000},"page":"59-63","source":"Crossref","is-referenced-by-count":19,"title":["Familial occurrence of the Wiedemann\u2010Beckwith syndrome and persistent fontanel"],"prefix":"10.1002","volume":"1","author":[{"given":"Annemarie","family":"Sommer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edward A.","family":"Cutler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin L.","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dwain","family":"Harper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carl","family":"Backes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Herrmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"223","article-title":"Complexe malformatif familial avec hernie ombilicale et macroglossie: Un \u201csyndrome nouveau","volume":"13","author":"Wiedemann HR","year":"1964","journal-title":"J G\u00e9n\u00e9t Hum"},{"key":"e_1_2_1_3_2","unstructured":"BeckwithJB WangC\u2010I DonnellGN GwinnJL:Hyperplastic fetal visceromegaly with macroglossia omphalocele cytomegaly of the adrenal fetal cortex postnatal somatic gigantism and other abnormalities: A newly recognized syndrome. Proceedings of the American Pediatric Society Abstracts (no. 41)56\u201357 1964."},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00440359"},{"key":"e_1_2_1_5_2","first-page":"255","article-title":"Neoplasms associated with the Beckwith\u2010Wiedemann syndrome","volume":"3","author":"Sotelo\u2010Avila C","year":"1977","journal-title":"Perspectives Pediatr Pathol"},{"key":"e_1_2_1_6_2","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/S0033-8389(22)01949-2","article-title":"Radiology of the Beckwith\u2010Wiedemann syndrome","volume":"10","author":"Lee FA","year":"1972","journal-title":"Radiol Clin North Am"},{"key":"e_1_2_1_7_2","series-title":"BD:OAS","first-page":"188","volume-title":"Malformation Syndromes","author":"Beckwith JB","year":"1969"},{"key":"e_1_2_1_8_2","first-page":"413","volume-title":"Mendelian Inheritance in Man","author":"McKusick VA","year":"1975"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00452093"},{"key":"e_1_2_1_10_2","unstructured":"HerrmannJ OpitzJM:Delayed mutation as a cause of genetic disease in man: Achondroplasia and the Wiedemann\u2010Beckwith syndrome. In Nichols WW Miller RW (eds): Proceedings of the Workshop at the Institute of Medical Research May 15\u201017 1975 Camden NJ in press."},{"key":"e_1_2_1_11_2","volume-title":"Recognizable Patterns of Human Malformations. Genetic, Embryologic and Clinical Aspects","author":"Smith DW","year":"1976"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320010107","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320010107","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T22:30:32Z","timestamp":1699828232000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320010107"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1977,1]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1977,1]]}},"alternative-id":["10.1002\/ajmg.1320010107"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320010107","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1977,1]]}}}