Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population.
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DOI: 10.1002/mgg3.2186
Abstract: BACKGROUND Miller syndrome is a rare type of postaxial acrofacial dysostosis caused by biallelic mutations in the DHODH gene, which is characterized mainly by craniofacial malformations of micrognathia, orofacial clefts, cup-shaped ears, and malar hypoplasia,… read more here.
Keywords: miller syndrome; variation dhodh; dhodh gene; dhodh ... See more keywords