Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Fassihi H, Sethi M, Fawcett H, Wing J, Chandler N, Mohammed S, Craythorne E, Morley AM, Lim R, Turner S, Henshaw T, Garrood I, Giunti P, Hedderly T, Abiona A, Naik H, Harrop G, McGibbon D, Jaspers NG, Botta E, Nardo T, Stefanini M, Young AR, Sarkany RP, Lehmann AR.
Fassihi H, et al. Among authors: wing j.
Proc Natl Acad Sci U S A. 2016 Mar 1;113(9):E1236-45. doi: 10.1073/pnas.1519444113. Epub 2016 Feb 16.
Proc Natl Acad Sci U S A. 2016.
PMID: 26884178
Free PMC article.