From childhood onset lymphedema to fatal fetal hydrops: Possible modifying genes for a FOXC2 mutation

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)85-88
Number of pages4
JournalLymphology
Volume51
Issue number2
StatePublished - Jan 1 2018

Keywords

  • Fatal fetal hydrops
  • FOXC2
  • Lymphedema
  • Modifying genes

ASJC Scopus subject areas

  • Immunology and Allergy
  • Hematology

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