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FROM CHILDHOOD ONSET LYMPHEDEMA TO FATAL FETAL HYDROPS: POSSIBLE MODIFYING GENES FOR A FOXC2 MUTATION

LW Lai, RP Erickson, M Bernas, MH Witte

Abstract


We performed whole exome sequencing in a family with FOXC2 mutation where the phenotype in one generation was strikingly more severe. Although there were 3 mutations shared by 2 fatal fetal hydrops cases and not the mildly affected mother, none of them were likely to be the cause of the marked phenotypic change.


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