Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients - Wang, Li; Xu, Qingdan; Wang, Wentao; Sun, Xinghuai; Chen, Yuhong (Orphanet journal of rare diseases, 2024)
Keywords: Adolescent; Analysis; Aniridia; Aniridia - genetics; BCOR; Binding proteins; Child; Child, Preschool; China; Congenital aniridia; Diagnosis; DNA sequencing; East Asian People - genetics; Female; Forkhead Transcription Factors - genetics; FOXC1; Genetic aspects; Genetic Testing - methods; High-Throughput Nucleotide Sequencing - methods; Humans; Infant; Male; Multiplex ligation probe amplification; Multiplex Polymerase Chain Reaction; Mutation - genetics; Nucleotide sequencing; Panel-based next-generation sequencing; PAX6; PAX6 Transcription Factor - genetics; China; Congenital aniridia; FOXC1; PAX6; BCOR; Multiplex ligation probe amplification; Panel-based next-generation sequencing