Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.

Rainger, Joe

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. [electronic resource] - Human molecular genetics Sep 2012 - 3969-83 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1460-2083

10.1093/hmg/dds218 doi


Abnormalities, Multiple--enzymology
Animals
Base Sequence
Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing)--genetics
Child, Preschool
DNA Mutational Analysis
Dihydroorotate Dehydrogenase
Embryo, Mammalian--metabolism
Female
Gas Chromatography-Mass Spectrometry--standards
Gene Expression Regulation, Developmental
Genetic Association Studies
Genetic Complementation Test
Humans
Infant
Limb Buds--metabolism
Limb Deformities, Congenital--enzymology
Male
Mandibulofacial Dysostosis--enzymology
Mice
Micrognathism--enzymology
Multienzyme Complexes--genetics
Mutation, Missense
Orotate Phosphoribosyltransferase--genetics
Orotic Acid--analogs & derivatives
Orotidine-5'-Phosphate Decarboxylase--genetics
Oxidoreductases Acting on CH-CH Group Donors--deficiency
Pedigree
Reference Standards
Schizosaccharomyces--genetics
Schizosaccharomyces pombe Proteins--genetics