Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.

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.
Am J Hum Genet; 104(5): 957-967, 2019 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-31006512

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