Understanding Rare Disease Pathogenesis: A Grand Challenge for Model Organisms

作者：Hieter Philip^*; Boycott Kym M

来源：GENETICS, 2014, 198(2): 443-445.

DOI：10.1534/genetics.114.170217

In this commentary, Philip Hieter and Kym Boycott discuss the importance of model organisms for understanding pathogenesis of rare human genetic diseases, and highlight the work of Brooks et al., Dysfunction of 60S ribosomal protein L10 (RPL10) disrupts neurodevelopment and causes X-linked microcephaly in humans, published in this issue of GENETICS.

• 出版日期2014-10