Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
TONSL 的亚等位基因突变导致 SPONASTRIME 发育不良
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.01.009
Hae Ryung Chang, Sung Yoon Cho, Jae Hoon Lee, Eunkyung Lee, Jieun Seo, Hye Ran Lee, Denise P Cavalcanti, Outi Mäkitie, Helena Valta, Katta M Girisha, Chung Lee, Kausthubham Neethukrishna, Gandham S Bhavani, Anju Shukla, Sheela Nampoothiri, Shubha R Phadke, Mi Jung Park, Shiro Ikegawa, Zheng Wang, Ma
