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

Autor:	Lai LW; Department of Chemistry and Biochemistry, University of Arizona College of Medicine, Tucson, USA., Erickson RP; Department of Pediatrics, University of Arizona College of Medicine, Tucson, USA., Bernas M; Department of Surgery, University of Arizona College of Medicine, Tucson, USA.; Department of Medical Education, TCU and UNTHSC School of Medicine, Fort Worth, USA., Witte MH; Department of Surgery, University of Arizona College of Medicine, Tucson, USA.
Jazyk:	angličtina
Zdroj:	Lymphology [Lymphology] 2018; Vol. 51 (2), pp. 85-88.
Abstrakt:	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. Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose. (Copyright by International Society of Lymphology.)
Databáze:	MEDLINE
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