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

Fingerprint

Hydrops Fetalis
Lymphedema
Exome
Mutation
Genes
Phenotype

Keywords

  • Fatal fetal hydrops
  • FOXC2
  • Lymphedema
  • Modifying genes

ASJC Scopus subject areas

  • Immunology and Allergy
  • Hematology

Cite this

From childhood onset lymphedema to fatal fetal hydrops : Possible modifying genes for a FOXC2 mutation. / Lai, Li-Wen; Erickson, R. P.; Bernas, Michael J; Witte, Marlys H.

In: Lymphology, Vol. 51, No. 2, 01.01.2018, p. 85-88.

Research output: Contribution to journalArticle

@article{8dd211a6c9c44b288f164566f4d569b8,
title = "From childhood onset lymphedema to fatal fetal hydrops: Possible modifying genes for a FOXC2 mutation",
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 = "Fatal fetal hydrops, FOXC2, Lymphedema, Modifying genes",
author = "Li-Wen Lai and Erickson, {R. P.} and Bernas, {Michael J} and Witte, {Marlys H}",
year = "2018",
month = "1",
day = "1",
language = "English (US)",
volume = "51",
pages = "85--88",
journal = "Lymphology",
issn = "0024-7766",
publisher = "International Society of Lymphology",
number = "2",

}

TY - JOUR

T1 - From childhood onset lymphedema to fatal fetal hydrops

T2 - Possible modifying genes for a FOXC2 mutation

AU - Lai, Li-Wen

AU - Erickson, R. P.

AU - Bernas, Michael J

AU - Witte, Marlys H

PY - 2018/1/1

Y1 - 2018/1/1

N2 - 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.

AB - 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.

KW - Fatal fetal hydrops

KW - FOXC2

KW - Lymphedema

KW - Modifying genes

UR - http://www.scopus.com/inward/record.url?scp=85054868417&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85054868417&partnerID=8YFLogxK

M3 - Article

VL - 51

SP - 85

EP - 88

JO - Lymphology

JF - Lymphology

SN - 0024-7766

IS - 2

ER -