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PubMed for id: 1806646397

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Page 1
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
Van Esch H, Colnaghi R, Freson K, Starokadomskyy P, Zankl A, Backx L, Abramowicz I, Outwin E, Rohena L, Faulkner C, Leong GM, Newbury-Ecob RA, Challis RC, Õunap K, Jaeken J, Seuntjens E, Devriendt K, Burstein E, Low KJ, O'Driscoll M. Van Esch H, et al. Am J Hum Genet. 2019 May 2;104(5):957-967. doi: 10.1016/j.ajhg.2019.03.006. Epub 2019 Apr 18. Am J Hum Genet. 2019. PMID: 31006512 Free PMC article.
DNA polymerase alpha defect in the N syndrome.
Floy KM, Hess RO, Meisner LF. Floy KM, et al. Am J Med Genet. 1990 Mar;35(3):301-5. doi: 10.1002/ajmg.1320350302. Am J Med Genet. 1990. PMID: 1689958