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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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Principais autores: 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
Format: Artigo
Sprog:Inglês
Udgivet: Wiley 2023-07-01
Serier:Molecular Genetics & Genomic Medicine
Fag:
acrofacial dysostosis
DHODH gene
Miller syndrome
whole exome sequencing
Online adgang:https://doi.org/10.1002/mgg3.2186
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