Portal de Periódicos da CAPES

Miller syndrome with novel dihydroorotate dehydrogenase gene mutations

2011; Wiley; Volume: 53; Issue: 4 Linguagem: Inglês

10.1111/j.1442-200x.2010.03303.x

1442-200X

Fumiko Kinoshita, Tatsuro Kondoh, Kazuhiro Komori, Takeshi Matsui, Naoki Harada, Akinori Yanai, Masafumi Fukuda, Kanako Morifuji, Tadashi Matsumoto,

Glycogen Storage Diseases and Myoclonus

Pediatrics InternationalVolume 53, Issue 4 p. 587-591 Miller syndrome with novel dihydroorotate dehydrogenase gene mutations Fumiko Kinoshita, Corresponding Author Fumiko Kinoshita Department of Pediatrics, Nagasaki Municipal HospitalFumiko Kinoshita, MD, Department of Pediatrics, Nagasaki Municipal Hospital, Shinchi 6-39, Nagasaki 850-8555, Japan. Email: [email protected]Search for more papers by this authorTatsuro Kondoh, Tatsuro Kondoh Division of Developmental Disabilities, The Misakaenosono Mutsumi Developmental, Medical and Welfare Center, IsahayaSearch for more papers by this authorKazuhiro Komori, Kazuhiro Komori Department of Pediatrics, Nagasaki Hospital Agency Kamigoto Hospital, Minami-Matsuura, JapanSearch for more papers by this authorTakeshi Matsui, Takeshi Matsui Nagasaki Laboratory, Mitsubishi Chemical Medience CorporationSearch for more papers by this authorNaoki Harada, Naoki Harada Nagasaki Laboratory, Mitsubishi Chemical Medience CorporationSearch for more papers by this authorAkinori Yanai, Akinori Yanai Department of Pediatrics, Nagasaki Municipal HospitalSearch for more papers by this authorMasafumi Fukuda, Masafumi Fukuda Division of Developmental Disabilities, The Misakaenosono Mutsumi Developmental, Medical and Welfare Center, IsahayaSearch for more papers by this authorKanako Morifuji, Kanako Morifuji Department of Nursing, Nagasaki University School of Medicine, NagasakiSearch for more papers by this authorTadashi Matsumoto, Tadashi Matsumoto Department of Nursing, Nagasaki University School of Medicine, NagasakiSearch for more papers by this author Fumiko Kinoshita, Corresponding Author Fumiko Kinoshita Department of Pediatrics, Nagasaki Municipal HospitalFumiko Kinoshita, MD, Department of Pediatrics, Nagasaki Municipal Hospital, Shinchi 6-39, Nagasaki 850-8555, Japan. Email: [email protected]Search for more papers by this authorTatsuro Kondoh, Tatsuro Kondoh Division of Developmental Disabilities, The Misakaenosono Mutsumi Developmental, Medical and Welfare Center, IsahayaSearch for more papers by this authorKazuhiro Komori, Kazuhiro Komori Department of Pediatrics, Nagasaki Hospital Agency Kamigoto Hospital, Minami-Matsuura, JapanSearch for more papers by this authorTakeshi Matsui, Takeshi Matsui Nagasaki Laboratory, Mitsubishi Chemical Medience CorporationSearch for more papers by this authorNaoki Harada, Naoki Harada Nagasaki Laboratory, Mitsubishi Chemical Medience CorporationSearch for more papers by this authorAkinori Yanai, Akinori Yanai Department of Pediatrics, Nagasaki Municipal HospitalSearch for more papers by this authorMasafumi Fukuda, Masafumi Fukuda Division of Developmental Disabilities, The Misakaenosono Mutsumi Developmental, Medical and Welfare Center, IsahayaSearch for more papers by this authorKanako Morifuji, Kanako Morifuji Department of Nursing, Nagasaki University School of Medicine, NagasakiSearch for more papers by this authorTadashi Matsumoto, Tadashi Matsumoto Department of Nursing, Nagasaki University School of Medicine, NagasakiSearch for more papers by this author First published: 18 August 2011 https://doi.org/10.1111/j.1442-200X.2010.03303.xCitations: 14Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Miller M, Fineman R, Smith DW. Postaxial acrofacial dysostosis syndrome. J. Pediatr. 1979; 95: 970–5. 10.1016/S0022-3476(79)80285-1 CASPubMedWeb of Science®Google Scholar 2 Ng SB, Buckingham KJ, Lee C et al. Exome sequencing identifies the cause of a Mendelian disorder. Nat. Genet. 2010; 42: 30–5. 10.1038/ng.499 CASPubMedWeb of Science®Google Scholar 3 Donnai D, Hughes HE, Winter RM. Postaxial acrofacial dysostosis (Miller) syndrome. J. Med. Genet. 1987; 24: 422–5. 10.1136/jmg.24.7.422 CASPubMedWeb of Science®Google Scholar 4 Stoll C, Viville B, Treisser A, Gasser B. A family with dominant oculoauriculovertebral spectrum. Am. J. Med. Genet. 1998; 78: 345–9. 10.1002/(SICI)1096-8628(19980724)78:4 3.0.CO;2-K CASPubMedWeb of Science®Google Scholar 5 Dixon MJ. Treacher Collins syndrome. Hum. Mol. Genet. 1996; 5: 1391–6. 10.1093/hmg/5.Supplement_1.1391 CASPubMedWeb of Science®Google Scholar 6 Aylsworth AS, Lin AE, Friedman PA. Nager acrofacial dysostosis: Male-to-male transmission in 2 families. Am. J. Med. Genet. 1991; 41: 83–8. 10.1002/ajmg.1320410121 CASPubMedWeb of Science®Google Scholar 7 McDonald MT, Gorski JL. Nager acrofacial dysostosis. J. Med. Genet. 1993; 30: 779–82. 10.1136/jmg.30.9.779 CASPubMedWeb of Science®Google Scholar 8 Gonzales B, Henning D, So RB et al. The Treacher Collins syndrome (TCOF1) gene product in involved in pre-rRNA methylation. Hum. Mol. Genet. 2005; 14(14): 2035–43. 10.1093/hmg/ddi208 CASPubMedWeb of Science®Google Scholar 9 Minet M, Dufour ME, Lacroute F. Cloning and sequencing of a human cDNA coding for dihydroorotate dehydrogenase by complementation of the corresponding yeast mutant. Gene 1992; 121(2): 393–6. 10.1016/0378-1119(92)90150-N CASPubMedWeb of Science®Google Scholar 10 Lui S, Neidhardt EA, Clardy J. Structures of human dihydroorotate dehydrogenase in complex with antiproliferative agents. Structure 2000; 8: 25–33. 10.1016/S0969-2126(00)00077-0 PubMedWeb of Science®Google Scholar Citing Literature Volume53, Issue4August 2011Pages 587-591 ReferencesRelatedInformation