{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,23]],"date-time":"2025-06-23T04:42:19Z","timestamp":1750653739891},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,1,6]],"date-time":"2005-01-06T00:00:00Z","timestamp":1104969600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2005,3]]},"abstract":"<jats:p>We describe a 20\u2010year\u2010old 46,XY woman, with clinical findings of Fraser syndrome and three mitochondrial DNA (mtDNA) mutations of Leber hereditary optic neuropathy. The patient had microphthalmia, blindness, widely spaced nipples, bifid ureter, syndactyly of the toes, and mental retardation. Sonography showed the presence of a uterus and intra\u2010abdominal gonads. The proband was screened for mtDNA mutations because of chronic gastrointestinal pseudo\u2010obstruction, urinary tract dysmotility, seizures, mental retardation and persistent macrocytosis, as well as the intermittent elevation of methylmalonic acid. Analysis of point mutations by multiplex polymerase chain reaction and allele\u2010specific oligonucleotide dot\u2010blot hybridization revealed three homoplasmic mtDNA mutations, T14484C, T4216C, and T3394C. This represents a unique case with sex reversal, Fraser\u2010like syndrome, and mitochondrial disease.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2004.00394.x","type":"journal-article","created":{"date-parts":[[2005,2,3]],"date-time":"2005-02-03T12:11:39Z","timestamp":1107432699000},"page":"252-257","source":"Crossref","is-referenced-by-count":2,"title":["Mitochondrial DNA mutations in a patient with sex reversal and clinical features consistent with Fraser syndrome"],"prefix":"10.1111","volume":"67","author":[{"given":"L\u2010JC","family":"Wong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y\u2010H","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Suwannarat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u2010H","family":"Hsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u2010Y","family":"Kwon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Mackowiak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,1,6]]},"reference":[{"key":"e_1_2_7_2_2","volume-title":"Fraser syndrome","author":"Jones KL","year":"1997"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1142"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1168"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.3.162"},{"key":"e_1_2_7_6_2","first-page":"2425","volume-title":"The metabolic and molecular bases of inherited diesase","author":"Wallace DC","year":"2001"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.40.25734"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005475802350"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.19.5444"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980605)77:5<395::AID-AJMG8>3.0.CO;2-M"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/43.10.1857"},{"key":"e_1_2_7_12_2","doi-asserted-by":"crossref","first-page":"1901","DOI":"10.1093\/clinchem\/48.11.1901","article-title":"Comprehensive scanning of the whole mitochondrial genome for mutations","volume":"48","author":"Wong L\u2010JC","year":"2002","journal-title":"Clin Chem"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03539.x"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199404000-00001"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.9.623"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0042-6989(96)00167-8"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M210285200"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110119200"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.02-0864"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.4.431"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.2.417"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-003-0042-2"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250111"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2004.00394.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2004.00394.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T08:49:14Z","timestamp":1696927754000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2004.00394.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,1,6]]},"references-count":22,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,3]]}},"alternative-id":["10.1111\/j.1399-0004.2004.00394.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2004.00394.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,1,6]]}}}