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

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 deformitie...

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Detalles Bibliográficos
Autores principales: Yang, Kai, Fu, Li‐Man, Chu, Xiao‐Yang, Zhang, Jing, Chen, Wen‐Qi, Yan, You‐Sheng, Wang, Yi‐Peng, Zhang, Dong‐Liang, Yin, Cheng‐Hong, Guo, Qing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337272/
https://www.ncbi.nlm.nih.gov/pubmed/37120754
http://dx.doi.org/10.1002/mgg3.2186

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