Miller syndrome with novel dihydroorotate dehydrogenase gene mutations

Pediatrics International

Volumn 53, Issue 4, 2011, Pages 587-591

  Kinoshita, Fumiko ^a   Kondoh, Tatsuro ^d   Komori, Kazuhiro ^e   Matsui, Takeshi ^b   Harada, Naoki ^b   Yanai, Akinori ^a   Fukuda, Masafumi ^d   Morifuji, Kanako ^c   Matsumoto, Tadashi ^c  

^a Nagasaki Municipal Hospital   (Japan)

^b LSI MEDIENCE CORPORATION   (Japan)

^c NAGASAKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d Misakaenosono Mutsumi Developmental   (Japan)

^e Agency Kamigoto Hospital   (Japan)

Author keywords

dihydroorotate dehydrogenase (DHODH) gene; Miller syndrome; postaxial acrofacial dysostosis

Indexed keywords

DIHYDROOROTATE DEHYDROGENASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; EAR MALFORMATION; FACE MALFORMATION; FEMALE; FINGER MALFORMATION; GENE MUTATION; HUMAN; LIMB DEFECT; MILLER FINEMAN SMITH SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; FEMALE; HETEROZYGOTE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MANDIBULOFACIAL DYSOSTOSIS; MICROGNATHISM; MUTATION, MISSENSE; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS;

EID: 80051961129     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.2010.03303.x     Document Type: Article

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