Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses
胎儿多囊肾病的非典型表现表明基因组尸检对于准确的死后诊断具有实用价值。
期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-025-00844-4
Frank, Mahalia S B; Bennett, Melissa K; Ha, Thuong T; Moore, Lynette; Arts, Peer; Byrne, Alicia B; Babic, Milena; Arriola-Martinez, Luis; Toubia, John; Brautigan, Peter J; Feng, Jinghua; Schwarz, Quenten; Thomas, Paul Q; Piltz, Sandra G; White, Melissa A; Moghimi, Ali; Strachan, Kate; Kwan, Edward; Springer, Amanda; Lewit-Mendes, Miranda; Dearman, Jarrad; Davis, Tenielle; Kevin, Lucy; McCarthy, Hugh J; Liebelt, Jan; Krzesinski, Emma; Regan, Matthew; Verma, Kunal; McGillivray, George; Jayasinghe, Kushani; Jackson, Matilda R; Barnett, Christopher P; Scott, Hamish S