Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. [electronic resource]
Producer: 20130117Description: 3969-83 p. digitalISSN:- 1460-2083
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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