1. EPHB4 mutation causes adult and adolescent-onset primary lymphedema.
- Author
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Greene AK, Brouillard P, Sudduth CL, Smits PJ, Konczyk DJ, and Vikkula M
- Subjects
- Adolescent, Adult, Female, Humans, Lymphedema pathology, Male, Mutation genetics, Genetic Predisposition to Disease, Lymphedema genetics, Receptor, EphB4 genetics
- Abstract
Primary lymphedema results from the anomalous development of the lymphatic system and typically presents during infancy, childhood, or adolescence. Adult-onset primary lymphedema is rare and mutations associated with this condition have not been identified. The purpose of this investigation was to search for variants that cause adult-onset primary lymphedema. We discovered an autosomal dominant EPHB4 mutation in a patient who developed unilateral leg lymphedema at age 39 years; the same mutation affected his son who presented with the disease at 14 years of age., (© 2021 Wiley Periodicals LLC.)
- Published
- 2021
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