Associated Papers
The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.
Aubert Mucca M et al.
Clinical Genetics, 2026
41339098 (PubMed )
Supplement: CGE-109-188-s001.xlsx › Literature
A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase.
Mero IL et al.
Heliyon, 2024
Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population.
Yang K et al.
Molecular Genetics & Genomic Medicine, 2023
Protein production, kinetic and biophysical characterization of three human dihydroorotate dehydrogenase mutants associated with Miller syndrome.
Orozco Rodriguez JM et al.
Nucleosides, Nucleotides & Nucleic Acids, 2022
Protein-lipid interactions of human dihydroorotate dehydrogenase and three mutants associated with Miller syndrome.
Orozco Rodriguez JM et al.
Nucleosides, Nucleotides & Nucleic Acids, 2022
Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses.
Bukowska-Olech E et al.
Frontiers in Genetics, 2020
Uncovering the assembly pathway of human ribosomes and its emerging links to disease.
Bohnsack KE et al.
The Embo Journal, 2019
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Fujikura K
Plos One, 2016
27219052 (PubMed )
Supplement: pone.0155552.s003.pdf
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.
Rainger J et al.
Human Molecular Genetics, 2012
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