{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T16:19:36Z","timestamp":1770826776341,"version":"3.50.1"},"reference-count":36,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":4997,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe 2 unrelated families with male\u2010to\u2010male transmission of Nager syndrome. All 5 affected individuals have moderate expression of the phenotype. One affected boy also has Hirschsprung disease. Although Nager acrofacial dysostosis usually occurs sporadically, both recessive and dominant inheritance have been suggested on the basis of reported familial cases. The 2 families described here with father\u2010to\u2010son transmission strongly support the hypothesis that some cases of Nager acrofacial dysostosis occur in individuals who are heterozygous for dominantly expressed, autosomal mutations.<\/jats:p>","DOI":"10.1002\/ajmg.1320410121","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:26:45Z","timestamp":1118550405000},"page":"83-88","source":"Crossref","is-referenced-by-count":39,"title":["Nager acrofacial dysostosis: Male\u2010to\u2010male transmission in 2 families"],"prefix":"10.1002","volume":"41","author":[{"given":"Arthur S.","family":"Aylsworth","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela E.","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia A.","family":"Friedman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.1988.7.3.163"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1963.tb01983.x"},{"key":"e_1_2_1_4_1","first-page":"109","article-title":"Mandibulofacial dysostosis with limb malformations (Nager's acrofacial dysostosis)","volume":"10","author":"Bowen P","year":"1974","journal-title":"BD:OAS"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(77)80453-8"},{"key":"e_1_2_1_6_1","first-page":"30","article-title":"Nager acrofacial dysostosis in four patients including monozygous twins","volume":"7","author":"Byrd LK","year":"1988","journal-title":"Proc Greenwood Genet Cntr"},{"key":"e_1_2_1_7_1","first-page":"192A","article-title":"Nager acrofacial dysostosis: clinical and hereditary classification of a heterogeneous entity","volume":"26","author":"Carey JC","year":"1978","journal-title":"Clin Res"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.4.230"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.5.339"},{"key":"e_1_2_1_10_1","first-page":"519","article-title":"Picture of the month. 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