{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T10:06:12Z","timestamp":1760954772373},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":8008,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1983,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a large, three generation kindred in which 16 individuals were affected with alopecia, hyposmia or anosmia, conductive deafness associated with protruding ears, microtia, and\/or atresia of the external auditory canal, hypogonadotropic hypogonadism due to LH\/FSH deficiency, and a greater than normal tendency to dental caries. Variable manifestations include mild facial asymmetry, mental retardation, congenital heart defect, and cleft palate. This seems to be a previously undescribed pleiotropic autosomal dominant trait with variable expressivity.<\/jats:p><jats:p>The manifestations can be explained on the basis of involvement of the ectoderm and neuroectoderm of the first and second branchial arches, of Rathke's pouch, and of the diencephalon.<\/jats:p>","DOI":"10.1002\/ajmg.1320150316","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:52:39Z","timestamp":1118515959000},"page":"497-506","source":"Crossref","is-referenced-by-count":39,"title":["A newly recognized neuroectodermal syndrome of familial alopecia, anosmia, deafness, and hypogonadism"],"prefix":"10.1002","volume":"15","author":[{"given":"Virginia P.","family":"Johnson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. Michael","family":"McMillin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr.","given":"Thomas","family":"Aceto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George","family":"Bruins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"John M.","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","unstructured":"BjornstadR(1965): Pili torti and sensorineural loss of hearing. Proceedings of the Seventeenth Meeting Northern Dermatological Society Copenhagen."},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80121-0"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI105470"},{"key":"e_1_2_1_5_1","volume-title":"Morphogenesis and Malformation of the Face and Brain","author":"Johnston MC","year":"1975"},{"issue":"7","key":"e_1_2_1_5_2","first-page":"1","author":"National Foundation\u2014March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_6_1","first-page":"203","article-title":"The genetic aspects of primary eunuchoidism","volume":"48","author":"Kallmann FJ","year":"1944","journal-title":"Am J. 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Proceedings of the 47th Meeting of the Endocrinology Society 1965."},{"key":"e_1_2_1_11_1","first-page":"428","article-title":"Familial hypogonadotropic hypogonadism with alopecia","volume":"121","author":"Salti IS","year":"1979","journal-title":"CMA J"},{"key":"e_1_2_1_12_1","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1001\/archinte.1968.03640060048009","article-title":"Familial hypogonadotropic hypogonadism with anosmia","volume":"121","author":"Sparkes RS","year":"1968","journal-title":"Arch Intern Med"},{"key":"e_1_2_1_13_1","first-page":"91","volume-title":"Craniofacial Anomalies","author":"Stark RB","year":"1968"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197012102832407"},{"key":"e_1_2_1_15_1","first-page":"33","article-title":"Cryptorchidism in a family with Kallman Syndrome","volume":"67","author":"Turner RC","year":"1974","journal-title":"Proc R Soc Med"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb00344.x"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320150316","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320150316","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T00:48:16Z","timestamp":1695775696000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320150316"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,7]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1983,7]]}},"alternative-id":["10.1002\/ajmg.1320150316"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320150316","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1983,7]]}}}