From childhood onset lymphedema to fatal fetal hydrops: Possible modifying genes for a FOXC2 mutation.
From childhood onset lymphedema to fatal fetal hydrops: Possible modifying genes for a FOXC2 mutation.
Lymphology. 2018;51(2):85-88
Authors: Lai LW, Erickson RP, Bernas M, Witte MH
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.
PMID: 30253460 [PubMed - in process]
Source: Lymphology - Category: Internal Medicine Tags: Lymphology Source Type: research