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

L. W. Lai; R. P. Erickson; M. Bernas; M. H. Witte

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

L. W. Lai, R. P. Erickson, M. Bernas, M. H. Witte

Research output: Contribution to journal › Article › peer-review

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 language	English (US)
Pages (from-to)	85-88
Number of pages	4
Journal	Lymphology
Volume	51
Issue number	2
State	Published - 2018

Keywords

FOXC2
Fatal fetal hydrops
Lymphedema
Modifying genes

ASJC Scopus subject areas

Immunology and Allergy
Hematology

Cite this

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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.",

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AU - Bernas, M.

AU - Witte, M. H.

PY - 2018

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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.

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KW - Fatal fetal hydrops

KW - Lymphedema

KW - Modifying genes

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

Abstract

Keywords

ASJC Scopus subject areas

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