Article
A Rare Case of Emberger Syndrome Caused By a De Novo Mutation in the GATA2 Gene.
Lymphology - 1 Mar 2016
Michelini S, Cardone M, Haag M, Agga O, Bruson A, Maltese P E, Bonizzato A, Bertelli M
Abstract excerpt
Emberger syndrome, or primary lymphedema with myelodysplasia, is a severe rare disease characterized by early primary lymphedema and blood anomalies including acute childhood leukemia. The syndrome is associated with heterozygous mutations in the GATA2 gene. We report on a 13-year-old boy who developed lymphedema of the right lower limb at age 6 years which was accompanied by severe panleukopenia and repeated...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.