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Page 1
Primary microcephaly: do all roads lead to Rome?
Thornton GK, Woods CG. Thornton GK, et al. Trends Genet. 2009 Nov;25(11):501-10. doi: 10.1016/j.tig.2009.09.011. Epub 2009 Oct 21. Trends Genet. 2009. PMID: 19850369 Free PMC article. Review.
WDR62 is associated with the spindle pole and is mutated in human microcephaly.
Nicholas AK, Khurshid M, Désir J, Carvalho OP, Cox JJ, Thornton G, Kausar R, Ansar M, Ahmad W, Verloes A, Passemard S, Misson JP, Lindsay S, Gergely F, Dobyns WB, Roberts E, Abramowicz M, Woods CG. Nicholas AK, et al. Nat Genet. 2010 Nov;42(11):1010-4. doi: 10.1038/ng.682. Epub 2010 Oct 3. Nat Genet. 2010. PMID: 20890279 Free PMC article.
An SCN9A channelopathy causes congenital inability to experience pain.
Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG. Cox JJ, et al. Nature. 2006 Dec 14;444(7121):894-8. doi: 10.1038/nature05413. Nature. 2006. PMID: 17167479 Free PMC article.