Article
A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema.
Lymphatic research and biology - 1 Jun 2015
Melikhan-Revzin Svetlana, Kurolap Alina, Dagan Efrat, Mory Adi, Gershoni-Baruch Ruth
Abstract excerpt
BACKGROUND: Primary lymphedema covers around 10% of all lymphedema cases. Most cases segregate as an autosomal dominant trait and rarely manifest autosomal recessive inheritance. Our research aimed to map and ultimately to hunt the mutation that causes hereditary lymphedema in an extended consanguineous Muslim family consisting of several affected individuals. METHODS AND RESULTS: We attempted molecular diagnosis...
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