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.
|Original language||English (US)|
|Number of pages||4|
|State||Published - Jan 1 2018|
- Fatal fetal hydrops
- Modifying genes
ASJC Scopus subject areas
- Immunology and Allergy