Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD)
全外显子组测序和功能表征可提高46,XY性发育差异（DSD）同胞的诊断率。
期刊:Journal of Steroid Biochemistry and Molecular Biology
影响因子:2.5
doi:10.1016/j.jsbmb.2021.105908
Luna, Sofia E; Wegner, Daniel J; Gale, Sarah; Yang, Ping; Hollander, Abby; St Dennis-Feezle, Lori; Nabhan, Zeina M; Ory, Daniel S; Cole, F Sessions; Wambach, Jennifer A
