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Article

Digenic Inheritance of a FOXC2 Mutation and Two PIEZO1 Mutations Underlies Congenital Lymphedema in a Multigeneration Family.

The American journal of medicine - 1 Feb 2022

Mustacich Debbie J, Lai Li-Wen, Bernas Michael J, Jones Jazmine A, Myles Reginald J, Kuo Phillip H, Williams Walter H, Witte Charles L, Erickson Robert P, Witte Marlys Hearst

Abstract excerpt

BACKGROUND: The lymphatic system is essential for maintaining the balance of interstitial fluid in tissues and for returning protein-rich fluids (lymph) to the bloodstream. Congenital lymphatic defects lead to accumulation of lymph in peripheral tissues and body cavities, termed primary lymphedema. To date, only a limited number of individual genes have been identified in association with primary lymphedema....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34656527
DOI: 10.1016/j.amjmed.2021.09.007
PMCID: PMC8939301

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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