Miller (genéeacute;wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

Human Molecular Genetics

Volumn 21, Issue 18, 2012, Pages 3969-3983

  Rainger, Joe ^a   Bengani, Hemant ^a   Campbell, Leigh ^d   Anderson, Eve ^a   Sokhi, Kishan ^k   Lam, Wayne ^b   Riess, Angelika ^e   Ansari, Morad ^a   Smithson, Sarah ^f   Lees, Melissa ^h   Mercer, Catherine ^g   Mckenzie, Kathryn ⁱ   Lengfeld, Tobias ^l   Gener querol, Blanca ^j   Branney, Peter ^a   Mckay, Stewart ^a   Morrison, Harris ^a   Medina, Bethan ^a   Robertson, Morag ^a   Kohlhase, Jürgen ^l   Gordon, Colin ^a   Kirk, Jean ^d   Wieczorek, Dagmar ^c   Fitzpatrick, David R ^a,b   more..

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b WESTERN GENERAL HOSPITAL   (United Kingdom)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

^d ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^e Institut fuer Humangenetik   (Germany)

^f ST MICHAEL'S HOSPITAL   (United Kingdom)

^g PRINCESS ANNE HOSPITAL   (United Kingdom)

^h GREAT ORMOND STREET HOSPITAL   (United Kingdom)

ⁱ ROYAL INFIRMARY OF EDINBURGH   (United Kingdom)

^j HOSPITAL DE CRUCES   (Spain)

^k UNIVERSITY OF EDINBURGH   (United Kingdom)

^l UNIVERSITY OF FREIBURG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROOROTATE DEHYDROGENASE; OROTIC ACID; PYRIMIDINE; 4,5 DIHYDROOROTIC ACID; 4,5-DIHYDROOROTIC ACID; CARBAMOYL PHOSPHATE SYNTHASE (GLUTAMINE HYDROLYSING); DRUG DERIVATIVE; MULTIENZYME COMPLEX; OROTATE PHOSPHORIBOSYLTRANSFERASE; OROTIDINE 5' PHOSPHATE DECARBOXYLASE; OXIDOREDUCTASE; SCHIZOSACCHAROMYCES POMBE PROTEIN; URIDINE 5' PHOSPHATE SYNTHASE; URIDINE 5'-MONOPHOSPHATE SYNTHASE;

ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIHYDROOROTATE DEHYDROGENASE DEFICIENCY; DIHYDROOROTATE DEHYDROGENASE GENE; DYSOSTOSIS; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE; GENEE WEIDEMANN SYNDROME; GENETIC ASSOCIATION; HUMAN; IN VITRO STUDY; INFANT; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SYNDROME; ANIMAL; ANIMAL EMBRYO; ENZYMOLOGY; GENE EXPRESSION REGULATION; GENETIC COMPLEMENTATION; GENETICS; GROWTH, DEVELOPMENT AND AGING; LIMB BUD; LIMB MALFORMATION; MANDIBULOFACIAL DYSOSTOSIS; MASS FRAGMENTOGRAPHY; METABOLISM; MICROGNATHIA; MOUSE; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; SCHIZOSACCHAROMYCES; STANDARD; URINE;

ABNORMALITIES, MULTIPLE; ANIMALS; BASE SEQUENCE; CARBAMOYL-PHOSPHATE SYNTHASE (GLUTAMINE-HYDROLYZING); CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EMBRYO, MAMMALIAN; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENETIC ASSOCIATION STUDIES; GENETIC COMPLEMENTATION TEST; HUMANS; INFANT; LIMB BUDS; LIMB DEFORMITIES, CONGENITAL; MALE; MANDIBULOFACIAL DYSOSTOSIS; MICE; MICROGNATHISM; MULTIENZYME COMPLEXES; MUTATION, MISSENSE; OROTATE PHOSPHORIBOSYLTRANSFERASE; OROTIC ACID; OROTIDINE-5'-PHOSPHATE DECARBOXYLASE; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PEDIGREE; REFERENCE STANDARDS; SCHIZOSACCHAROMYCES; SCHIZOSACCHAROMYCES POMBE PROTEINS;

EID: 84865723602     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds218     Document Type: Article

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