{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T16:22:25Z","timestamp":1789921345198,"version":"4.0.1"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2009,1,22]],"date-time":"2009-01-22T00:00:00Z","timestamp":1232582400000},"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":[[2009,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>B\u00f6rjeson\u2013Forssman\u2013Lehmann syndrome is an X\u2010linked condition caused by <jats:italic>PHF6<\/jats:italic> mutations. The classical description of males with this disorder includes severe intellectual disability with epilepsy, microcephaly, short stature, obesity, hypogonadism, and gynecomastia. We present three males with <jats:italic>PHF6<\/jats:italic> mutations whose features included deep\u2010set eyes, large ears, coarse face, tapering fingers, and truncal obesity. Unlike the original description of the syndrome; however, the males described herein had varying degrees of intellectual disability and hypogonadism, were of normal to tall stature, had normal to large head sizes, and did not have seizures. This departure from the usual clinical description of B\u00f6rjeson\u2013Forssman\u2013Lehmann syndrome is consistent with recent reports of males with mutations in <jats:italic>PHF6<\/jats:italic>. In addition, we describe the phenotype and X\u2010inactivation pattern in two females heterozygous for <jats:italic>PHF6<\/jats:italic> mutations, both of whom have mild features of the syndrome. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32624","type":"journal-article","created":{"date-parts":[[2009,1,22]],"date-time":"2009-01-22T19:20:22Z","timestamp":1232652022000},"page":"246-250","source":"Crossref","is-referenced-by-count":31,"title":["Further clinical delineation of the B\u00f6rjeson\u2013Forssman\u2013Lehmann syndrome in patients with <i>PHF6<\/i> mutations"],"prefix":"10.1002","volume":"149A","author":[{"given":"Melissa T.","family":"Carter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Picketts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alasdair G.","family":"Hunter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gail E.","family":"Graham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,1,22]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen RC","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.4.e50"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0954-6820.1962.tb04162.x"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.033084"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201639"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991126)87:3<258::AID-AJMG12>3.0.CO;2-Q"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1040"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201228"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340403"},{"key":"e_1_2_5_11_1","first-page":"168","article-title":"Skewed X\u2010chromosome inactivation is a common feature of X\u2010linked mental retardation disorders","volume":"71","author":"Plenge RM","year":"2002","journal-title":"Am J Med Genet"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340402"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0009-9163.2004.00215.x"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.020370"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.07.041"}],"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.32624","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32624","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T15:24:02Z","timestamp":1699975442000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32624"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,1,22]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2009,2]]}},"alternative-id":["10.1002\/ajmg.a.32624"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32624","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,1,22]]}}}