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

ConclusionsThese findings provided with the first exonic deletion and first splice site variant inDHODH, which expanded the mutation spectrum of Miller syndrome and offered reliable evidence for genetic counseling to the affected family.

Source: Molecular Genetics & Genomic Medicine - May 1, 2023 Category: Genetics & Stem Cells Authors: 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 Tags: CLINICAL REPORT Source Type: research