Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism
DNA聚合酶α-引物酶缺陷导致X连锁智力障碍,并伴有严重的生长迟缓、小头畸形和性腺功能减退。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.03.006
Van Esch, Hilde; Colnaghi, Rita; Freson, Kathleen; Starokadomskyy, Petro; Zankl, Andreas; Backx, Liesbeth; Abramowicz, Iga; Outwin, Emily; Rohena, Luis; Faulkner, Claire; Leong, Gary M; Newbury-Ecob, Ruth A; Challis, Rachel C; Õunap, Katrin; Jaeken, Jacques; Seuntjens, Eve; Devriendt, Koen; Burstein, Ezra; Low, Karen J; O'Driscoll, Mark