Articles

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

Authors: 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.

Keywords: lymphedema, fatal fetal hydrops, FOXC2, modifying genes

How to Cite: Lai, L. , Erickson, R. , Bernas, M. & Witte, M. (2018) “FROM CHILDHOOD ONSET LYMPHEDEMA TO FATAL FETAL HYDROPS: POSSIBLE MODIFYING GENES FOR A FOXC2 MUTATION”, Lymphology. 51(2).