{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T15:44:38Z","timestamp":1762098278635},"reference-count":7,"publisher":"Wiley","issue":"22","license":[{"start":{"date-parts":[[2006,10,11]],"date-time":"2006-10-11T00:00:00Z","timestamp":1160524800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2006,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 10\u2010year\u2010old girl with characteristic features of Keipert syndrome (broad terminal phalanges, especially of the thumb and hallux, sensorineural deafness, unusual facial features, large head circumference, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, large head circumference, maxillary hypoplasia, and hoarse voice) are presented. The girl is the first reported female with this rare syndrome to date, and the fact that she probably inherited the disease from her father suggests an autosomal dominant pattern of inheritance. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31489","type":"journal-article","created":{"date-parts":[[2006,10,11]],"date-time":"2006-10-11T20:00:12Z","timestamp":1160596812000},"page":"2488-2492","source":"Crossref","is-referenced-by-count":8,"title":["Daughter and her mildly affected father with Keipert syndrome"],"prefix":"10.1002","volume":"140A","author":[{"given":"Miroslav","family":"Dumic","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Durda Dovzak","family":"Kokic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toni","family":"Matic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristina","family":"Potocki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,10,26]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb02631.x"},{"key":"e_1_2_4_3_1","first-page":"776","article-title":"Additional case of Keipert syndrome and review of the literature","volume":"6","author":"Cappon SM","year":"2000","journal-title":"Med Sci Monit"},{"key":"e_1_2_4_4_1","first-page":"10","article-title":"A new syndrome of broad terminal phalanges and facial abnormalities","volume":"9","author":"Keipert JA","year":"1973","journal-title":"Aust Paediatric J"},{"key":"e_1_2_4_5_1","first-page":"60","article-title":"A new autosomal recessive syndrome: Peripheral pulmonary stenosis, brachytelephalangism, neural hearing loss and abnormal cartilage calcifications\/ossification","volume":"8","author":"Keutel J","year":"1972","journal-title":"Birth Defects Orig Art Ser"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/5102"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10063"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980630)78:2<182::AID-AJMG18>3.0.CO;2-J"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31489","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31489","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T22:58:57Z","timestamp":1697669937000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31489"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,10,26]]},"references-count":7,"journal-issue":{"issue":"22","published-print":{"date-parts":[[2006,11,15]]}},"alternative-id":["10.1002\/ajmg.a.31489"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31489","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,10,26]]}}}