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Cardiovascular disease in Noonan syndrome.
Prendiville TW, Gauvreau K, Tworog-Dube E, Patkin L, Kucherlapati RS, Roberts AE, Lacro RV. Prendiville TW, et al. Arch Dis Child. 2014 Jul;99(7):629-34. doi: 10.1136/archdischild-2013-305047. Epub 2014 Feb 17. Arch Dis Child. 2014. PMID: 24534818
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, Eyaid W, Bodell A, Barry B, Gleason D, Allen K, Ganesh VS, Chang BS, Grix A, Hill RS, Topcu M, Caldecott KW, Barkovich AJ, Walsh CA. Shen J, et al. Nat Genet. 2010 Mar;42(3):245-9. doi: 10.1038/ng.526. Epub 2010 Jan 31. Nat Genet. 2010. PMID: 20118933 Free PMC article.