POLR3A Identified as Major Locus for Autosomal Recessive Wiedemann-Rautenstrauch Syndrome: New findings show "compelling evidence" that POLR3A mutations underlie the etiology of autosomal-recessive WRS.
出版信息
Am J Med Genet A. 2019 Feb;179(2):146-147. doi: 10.1002/ajmg.a.61040.