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