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Comment
. 2010 Dec;78(6):517-9.
doi: 10.1111/j.1399-0004.2010.01530_1.x. Epub 2010 Sep 29.

Two-hit wonder: a novel genetic model to explain variable expressivity in severe pediatric phenotypes

R A Kumar  1
Affiliations
Comment

Two-hit wonder: a novel genetic model to explain variable expressivity in severe pediatric phenotypes

R A Kumar. Clin Genet. 2010 Dec.
No abstract available

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Comment on

  • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
    Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE. Girirajan S, et al. Nat Genet. 2010 Mar;42(3):203-9. doi: 10.1038/ng.534. Epub 2010 Feb 14. Nat Genet. 2010. PMID: 20154674 Free PMC article.

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