Article
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
Birth defects research - 15 Mar 2023
Lajmi Yosra, Loeuillet Laurence, Petrilli Giulia, Egloff Charles, Nectoux Juliette, Molac Clémence, Roux Nathalie, Pannier Emmanuelle, Achaiaa Amale, Arkoub Zaina Ait, Chuon Sophie, Coussement Aurélie, Dupont Jean Michel, Malan Valérie, Spaggiari Emmanuel, Razavi Ferechte, Amiel Jeanne, Bessières Bettina, Grotto Sarah, Attié-Bitach Tania
Abstract excerpt
BACKGROUND: Hereditary lymphedema 1 is a rare congenital condition, characterized by the development of chronic swelling in body parts. It is highly variable in expression and age of onset with different presentations: from feet edema to hydrops fetalis. This affection is genetically heterogeneous with autosomal dominant inheritance and incomplete penetrance due to a mutation in the FLT4 gene in most cases....
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