De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications - Moriura, Yuri; Nishio, Yosuke; Ichimura, Shintaro; Noda, Haruka; Tanahashi, Yoshihiro; Yamamoto, Hikaru; Nakazawa, Yuka; Oso, Taichi; Sato, Yoshiaki; Takenouchi, Toshiki; Saitoh, Shinji; Muramatsu, Yukako; et al. (Human genome variation, 2025)
Keywords: 631/208/176/1968; 631/208/176/1988; 631/61/514/2254; Biomedical and Life Sciences; Biomedicine; Data Report; DNA methylation; Gallbladder diseases; Gene Expression; Gene Function; Gene Therapy; Genetics; Genomes; Genomic imprinting; Haplotypes; Human Genetics; Hypoglycemia; Medicine; Molecular Medicine; Mutation; Neonatal care; Pediatrics; University graduates