{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T19:31:30Z","timestamp":1760297490884},"reference-count":34,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":5058,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Multiple cases of posterior helical ear pits (PHEP) with apparent autosomal dominant inheritance in a very large family are reported. There are at least 2 cases of Wiedemann\u2010Beckwith syndrome (WBS) within this family. Three other instances of familial PHEP and\/or WBS are presented. An individual with a somewhat atypical osteopetrosis and PHEP is described. The previous literature of PHEP and the association with WBS is reviewed.<\/jats:p>","DOI":"10.1002\/ajmg.1320400213","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:27:22Z","timestamp":1118546842000},"page":"188-195","source":"Crossref","is-referenced-by-count":15,"title":["Familial posterior helical ear pits and Wiedemann\u2010Beckwith syndrome"],"prefix":"10.1002","volume":"40","author":[{"given":"Lyle G.","family":"Best","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"issue":"4","key":"e_1_2_1_2_1","first-page":"289","article-title":"Microtia\u2010clinical observations","author":"Aase JM","year":"1980","journal-title":"BD:OAS"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330202"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1951.03750080003001"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1000180204"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350322"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1971.02110060085015"},{"key":"e_1_2_1_8_1","first-page":"71","volume-title":"Associated Congenital Anoamlies","author":"Cohen MM","year":"1981"},{"key":"e_1_2_1_9_1","first-page":"692","volume-title":"Scientific Tables","author":"Diem K","year":"1970"},{"key":"e_1_2_1_10_1","first-page":"26","article-title":"Congenital abnormalities of the external ear","volume":"43","author":"Foucar HO","year":"1940","journal-title":"Can M A J"},{"key":"e_1_2_1_11_1","first-page":"325","volume-title":"Syndromes of the Head and Neck","author":"Gorlin RJ","year":"1990"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80072-1"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00279003"},{"key":"e_1_2_1_14_1","doi-asserted-by":"crossref","unstructured":"HerrmannJ OpitzJM(1975): Delayed mutation as a cause of genetic disease in man: Achondroplasia and the Wiedemann\u2010Beckwith syndrome. In W. W. Nichols and R. W. Miller (eds):Institute for Medical Research Proceedings of Workshop on Regulation of Cell Proliferation and Differentiation. May 1975 pp65\u201379.","DOI":"10.1007\/978-1-4615-8846-7_2"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(67)80003-4"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170208"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(72)90825-2"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00452093"},{"key":"e_1_2_1_19_1","first-page":"711","article-title":"Familial Wiedemann\u2010Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5","volume":"44","author":"Koufos A","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(74)90383-3"},{"issue":"4","key":"e_1_2_1_21_1","first-page":"303","article-title":"The etiology of external ear malformations and its relation to abnormalities of the middle ear, inner ear, and other organ systems","author":"Melnick M","year":"1980","journal-title":"BO:OAS"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240107"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282078"},{"key":"e_1_2_1_24_1","first-page":"720","article-title":"Genetic linkage of Beckwith\u2010Wiedemann syndrome to 11p15","volume":"44","author":"Ping AJ","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(86)80377-8"},{"issue":"4","key":"e_1_2_1_26_1","first-page":"299","article-title":"Ear muscles and ear form","author":"Smith DW","year":"1980","journal-title":"BD:OAS"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010107"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80322-2"},{"key":"e_1_2_1_29_1","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1542\/peds.66.1.121","article-title":"Wilm's tumor in a patient with an incomplete form of Beckwith\u2010Wiedemann syndrome","volume":"66","author":"Sotelo\u2010Avila C","year":"1980","journal-title":"Pediatrics"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000637-198904000-00011"},{"key":"e_1_2_1_31_1","first-page":"574","article-title":"The shape of the ear in relation to body constitution","volume":"54","author":"Vollmer H","year":"1937","journal-title":"Arch Pediatr"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80014-6"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00440536"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442111"},{"key":"e_1_2_1_35_1","first-page":"525","article-title":"The development of the external ear","volume":"68","author":"Wood\u2010Jones F","year":"1934","journal-title":"J Anat"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320400213","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320400213","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T01:29:56Z","timestamp":1698024596000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320400213"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,8]]},"references-count":34,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1991,8]]}},"alternative-id":["10.1002\/ajmg.1320400213"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320400213","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,8]]}}}