{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:06:17Z","timestamp":1777802777540,"version":"3.51.4"},"reference-count":21,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2009,3,4]],"date-time":"2009-03-04T00:00:00Z","timestamp":1236124800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2009,5]]},"abstract":"<jats:p>The B\u00f6rjeson-Forssman-Lehmann syndrome is an X-linked mental retardation disorder caused by mutations in the PHF6 gene. The PHF6 gene contains 2 plant homeodomain zinc fingers, suggesting a role for the protein in chromatin remodeling. In this study, the authors report on a Finnish family with a classical B\u00f6rjeson-Forssman-Lehmann syndrome phenotype caused by a G to T nucleotide substitution at position 266 within exon 4 within the PHF6 gene (c.266G&gt;T). The resulting glycine to valine (p.G89V) change corresponds to a highly conserved residue within the first plant homeodomain zinc finger domain. This is a novel change that adds to the number of plant homeodomain zinc finger mutations identified, such that 23% of all B\u00f6rjeson-Forssman-Lehmann syndrome mutations lie within this motif. Moreover, it highlights the functional importance of plant homeodomain zinc finger motifs to human disease and more specifically to PHF6 function.<\/jats:p>","DOI":"10.1177\/0883073808327830","type":"journal-article","created":{"date-parts":[[2009,3,5]],"date-time":"2009-03-05T23:37:22Z","timestamp":1236296242000},"page":"610-614","source":"Crossref","is-referenced-by-count":16,"title":["B\u00f6rjeson-Forssman-Lehmann Syndrome Due to a Novel Plant Homeodomain Zinc Finger Mutation in the PHF6 Gene"],"prefix":"10.1177","volume":"24","author":[{"given":"Marie","family":"Mangelsdorf","sequence":"first","affiliation":[{"name":"Regenerative Medicine Program, Ottawa Health Research Institute, Ottawa, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelyne","family":"Chevrier","sequence":"additional","affiliation":[{"name":"Regenerative Medicine Program, Ottawa Health Research Institute, Ottawa, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aki","family":"Mustonen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.","family":"Picketts","sequence":"additional","affiliation":[{"name":"Regenerative Medicine Program, Ottawa Health Research Institute, Ottawa, Ontario, Canada, Departments of Medicine and Biochemistry, Microbiology, and Immunology, and the Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario, Canada,"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2009,3,4]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.033084"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201639"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1038\/ng1040"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1111\/j.0009-9163.2004.00215.x"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.020370"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.07.041"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<63::AID-AJMG9>3.0.CO;2-S"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.4.e50"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1101\/gr.212802"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkf493"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg509"},{"key":"atypb12","doi-asserted-by":"publisher","DOI":"10.1080\/10629360108033246"},{"key":"atypb13","doi-asserted-by":"publisher","DOI":"10.1016\/j.modgep.2007.06.007"},{"key":"atypb14","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(00)88957-4"},{"key":"atypb15","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2005.11.001"},{"key":"atypb16","doi-asserted-by":"publisher","DOI":"10.1038\/nature04815"},{"key":"atypb17","doi-asserted-by":"publisher","DOI":"10.1038\/nature04802"},{"key":"atypb18","doi-asserted-by":"publisher","DOI":"10.1038\/nature04835"},{"key":"atypb19","doi-asserted-by":"publisher","DOI":"10.1038\/ng1097-146"},{"key":"atypb20","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20734"},{"key":"atypb21","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0704057104"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073808327830","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073808327830","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:33:56Z","timestamp":1777494836000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073808327830"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3,4]]},"references-count":21,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2009,5]]}},"alternative-id":["10.1177\/0883073808327830"],"URL":"https:\/\/doi.org\/10.1177\/0883073808327830","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3,4]]}}}