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In addition to our three patients, we have identified five patients in the literature with hypertrichosis and Leigh syndrome due to <jats:italic>SURF1<\/jats:italic> mutations. Since most patients had onset of hypertrichosis before the diagnosis of Leigh syndrome was made, we suggest that clinicians consider Leigh syndrome in patients with, for example, psychomotor retardation or other unspecific symptoms in combination with hypertrichosis. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30972","type":"journal-article","created":{"date-parts":[[2005,10,12]],"date-time":"2005-10-12T20:16:52Z","timestamp":1129148212000},"page":"384-388","source":"Crossref","is-referenced-by-count":18,"title":["Hypertrichosis in patients with <i>SURF1<\/i> mutations"],"prefix":"10.1002","volume":"138A","author":[{"given":"Elsebet","family":"\u00d8stergaard","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irena","family":"Bradinova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne Holst","family":"Ravn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flemming Juul","family":"Hansen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emil","family":"Simeonov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ernst","family":"Christensen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flemming","family":"Wibrand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianne","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,10,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/345489"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(01)00803-4"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1006\/bmmb.1994.1004"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.103.2.428"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1141"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000029855"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.275.18.13994"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.11.895"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/301957"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.2.109"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(94)90270-4"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(99)70123-4"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001023)94:5<421::AID-AJMG15>3.0.CO;2-9"},{"key":"e_1_2_6_15_1","first-page":"49","volume-title":"Disorders of hair growth. 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