{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T22:55:26Z","timestamp":1780354526100,"version":"3.54.1"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7338,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on two brothers and their maternal first cousin who have branchial arch defects and other anomalies. Similar physical findings in all three include microcephaly, downslanting palpebral fissures, highly arched palate, apparently lowset, protruding ears, bilateral hearing loss, slightly webbed neck, and mild short stature. In addition, two boys had cryptorchidism, and one had subvalvar pulmonic stenosis and body asymmetry. We suggest that these cousins have an X\u2010linked syndrome of which branchial arch defects are a component. Other pleiotropic manifestations of the mutant gene include microcephaly and cryptorchidism; body asymmetry and relatively short stature may be components as well.<\/jats:p>","DOI":"10.1002\/ajmg.1320210120","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:47:57Z","timestamp":1118537277000},"page":"137-142","source":"Crossref","is-referenced-by-count":20,"title":["X\u2010linked syndrome of branchial arch and other defects"],"prefix":"10.1002","volume":"21","author":[{"given":"Helga V.","family":"Toriello","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James V.","family":"Higgins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jon","family":"Abrahamson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald F.","family":"Waterman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. David","family":"Moore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80599-3"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-197112000-00004"},{"key":"e_1_2_1_4_1","first-page":"546","volume-title":"Syndromes of the Head and Neck","author":"Gorlin RJ","year":"1976"},{"key":"e_1_2_1_5_1","volume-title":"Morphogenesis and Malformation fo the Face and Brain","author":"Johnston MC","year":"1975"},{"issue":"7","key":"e_1_2_1_5_2","first-page":"1","journal-title":"BD:OAS"},{"key":"e_1_2_1_6_1","volume-title":"Genetic and Metabolic Deafness","author":"Konigsmark BW","year":"1976"},{"key":"e_1_2_1_7_1","volume-title":"Morphogenesis and Malformation fo the Face and Brain","author":"LeDouarin NM","year":"1975"},{"issue":"7","key":"e_1_2_1_7_2","first-page":"19","journal-title":"BD:OAS"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01546.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120408"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150207"},{"key":"e_1_2_1_11_1","first-page":"102","volume-title":"Recognizable Patterns of Human Malformation","author":"Smith DW","year":"1982"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320210120","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320210120","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T18:02:08Z","timestamp":1697824928000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320210120"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,5]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1985,5]]}},"alternative-id":["10.1002\/ajmg.1320210120"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320210120","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,5]]}}}