Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis
RBM28(一种与核糖体生物合成相关的核仁蛋白)表达下降引起的脱发、神经系统缺陷和内分泌病综合征
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2008.03.014
Janna Nousbeck, Ronen Spiegel, Akemi Ishida-Yamamoto, Margarita Indelman, Ayelet Shani-Adir, Noam Adir, Ehud Lipkin, Sivan Bercovici, Dan Geiger, Maurice A van Steensel, Peter M Steijlen, Reuven Bergman, Albrecht Bindereif, Mordechai Choder, Stavit Shalev, Eli Sprecher