Associated Papers
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
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
Exome sequencing identifies the cause of a mendelian disorder.
Ng SB et al.
Nature Genetics, 2010
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