Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population

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, combined with postaxial limb de...

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Hlavní autoři:	Kai Yang, Li‐Man Fu, Xiao‐Yang Chu, Jing Zhang, Wen‐Qi Chen, You‐Sheng Yan, Yi‐Peng Wang, Dong‐Liang Zhang, Cheng‐Hong Yin, Qing Guo
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wiley 2023-07-01
Edice:	Molecular Genetics & Genomic Medicine
Témata:	acrofacial dysostosis DHODH gene Miller syndrome whole exome sequencing
On-line přístup:	https://doi.org/10.1002/mgg3.2186
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