Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing
通过新生儿筛查和下一代测序技术，在男性中发现了嵌合型 X 连锁肾上腺脑白质营养不良症。
期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-025-00497-1
Keefe, Alexandra C; Jensen, Dana M; Pham, Meranda M; Au, Natalie Y T; Beckman, Erika; Penon-Portmann, Monica; Shelkowitz, Emily; Bend, Renee; Morrow, Michelle M; Kruszka, Paul; Vats, Divya; Russell, Bianca E; Chan, Erica; Wong, Derek; Rabani, Ahna; O'Grady, Lauren; Sahai, Inderneel; Widmeyer, Kimberly; Sperry, Ethan D; Hallinan, Barbara E; Tryon, Rebecca; Lund, Troy C; Eichler, Florian S; Sun, Angela; Bennett, James T
