Phenotypic Heterogeneity or Call for Reclassification
2010
(American Journal of Human Genetics 87, 306–307)We mistakenly designated the mutation in FKBP10 (NM_ 021939.3) in our two patients as c.1023insGGAGAATT andp.T342GfsX367. The proper designation is c.1016_1023dup and p.Thr342GlyfsX26. This error appears both in the textandinFigure1E,inwhichwealsoshowedthetwomutationsmistakenlydescribedbyAlanayetalasp.Gly107_Leu117del(thecorrectdesignationisp.Met107_Leu117del)andp.Gly278ArgfsX295(thecorrectdesignationisp.Gly278ArgfsX95).
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