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.
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), 85-88.
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