TY  - GEN
AU  - Rainger,Joe
AU  - Bengani,Hemant
AU  - Campbell,Leigh
AU  - Anderson,Eve
AU  - Sokhi,Kishan
AU  - Lam,Wayne
AU  - Riess,Angelika
AU  - Ansari,Morad
AU  - Smithson,Sarah
AU  - Lees,Melissa
AU  - Mercer,Catherine
AU  - McKenzie,Kathryn
AU  - Lengfeld,Tobias
AU  - Gener Querol,Blanca
AU  - Branney,Peter
AU  - McKay,Stewart
AU  - Morrison,Harris
AU  - Medina,Bethan
AU  - Robertson,Morag
AU  - Kohlhase,Jürgen
AU  - Gordon,Colin
AU  - Kirk,Jean
AU  - Wieczorek,Dagmar
AU  - Fitzpatrick,David R
TI  - Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH
SN  - 1460-2083
PY  - 2013///0117
KW  - Abnormalities, Multiple
KW  - enzymology
KW  - Animals
KW  - Base Sequence
KW  - Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing)
KW  - genetics
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Dihydroorotate Dehydrogenase
KW  - Embryo, Mammalian
KW  - metabolism
KW  - Female
KW  - Gas Chromatography-Mass Spectrometry
KW  - standards
KW  - Gene Expression Regulation, Developmental
KW  - Genetic Association Studies
KW  - Genetic Complementation Test
KW  - Humans
KW  - Infant
KW  - Limb Buds
KW  - Limb Deformities, Congenital
KW  - Male
KW  - Mandibulofacial Dysostosis
KW  - Mice
KW  - Micrognathism
KW  - Multienzyme Complexes
KW  - Mutation, Missense
KW  - Orotate Phosphoribosyltransferase
KW  - Orotic Acid
KW  - analogs & derivatives
KW  - Orotidine-5'-Phosphate Decarboxylase
KW  - Oxidoreductases Acting on CH-CH Group Donors
KW  - deficiency
KW  - Pedigree
KW  - Reference Standards
KW  - Schizosaccharomyces
KW  - Schizosaccharomyces pombe Proteins
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/dds218
ER  -