{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T22:45:33Z","timestamp":1780353933460,"version":"3.54.1"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5665,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1989,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have studied 7 males in one family with mild\/moderate intellectual handicap, long thick ears, deep\u2010set eyes, small testes, and post pubertal gynecomastia. The affected males and some of the heterozygous females also had tapering fingers and short, widely spaced flexed toes. The pedigree demonstrates X\u2010linked recessive inheritance. The clinical manifestations are similar to those described in the B\u00f6rjeson\u2010Forssman\u2010Lehmann (BFL) syndrome but differ in the degree of mental handicap and the absence of \u201cdwarfism\u201d and microcephaly. This milder manifestation may represent either phenotypic or genotypic variation. DNA marker studies demonstrated linkage to the<jats:italic>DXS86<\/jats:italic>,<jats:italic>DXS51<\/jats:italic>, and<jats:italic>F<\/jats:italic>9 cluster at Xq26\u2010q27. The maximum lod score was 2.1 with<jats:italic>DXS<\/jats:italic>51, at \u03b8 = 0.0. Definite recombinants were observed between<jats:italic>DXS10<\/jats:italic>(at Xq26 but proximal to<jats:italic>DXS86<\/jats:italic>),<jats:italic>DXS105<\/jats:italic>(at Xq27 but distal to<jats:italic>F<\/jats:italic>9), and<jats:italic>BFL<\/jats:italic>. Thus, the regional localization for<jats:italic>BFL<\/jats:italic>is Xq26\u2010q27 between<jats:italic>DXS10<\/jats:italic>and<jats:italic>DXS105<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.1320340402","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:32:15Z","timestamp":1118547135000},"page":"463-469","source":"Crossref","is-referenced-by-count":54,"title":["B\u00f6rjeson\u2010Forssman\u2010Lehmann syndrome: Clinical manifestations and gene localization to Xq26\u201027"],"prefix":"10.1002","volume":"34","author":[{"given":"Gillian","family":"Turner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agi","family":"Gedeon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Mulley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grant","family":"Sutherland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Rae","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keith","family":"Power","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Arthur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190405"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1111\/j.0954-6820.1962.tb04162.x","article-title":"An X\u2010linked recessively inherited syndrome characterised by grave mental deficiency, epilepsy and endocrine disorder","volume":"171","author":"B\u00f6rjeson M","year":"1962","journal-title":"Acta Med Scand"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132481"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb01260.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300154"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270222"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300153"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150311"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80350-9"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132180"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320340402","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320340402","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,26]],"date-time":"2024-01-26T16:30:13Z","timestamp":1706286613000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320340402"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,12]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1989,12]]}},"alternative-id":["10.1002\/ajmg.1320340402"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320340402","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,12]]}}}