Article
GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome.
Hematology (Amsterdam, Netherlands) - 1 Sept 2017
Brambila-Tapia Aniel Jessica Leticia, García-Ortiz José Elías, Brouillard Pascal, Nguyen Ha-Long, Vikkula Miikka, Ríos-González Blanca Estela, Sandoval-Muñiz Roberto de Jesús, Sandoval-Talamantes Ana Karen, Bobadilla-Morales Lucina, Corona-Rivera Jorge Román, Arnaud-Lopez Lisette
Abstract excerpt
INTRODUCTION: GATA2 mutations are associated with several conditions, including Emberger syndrome which is the association of primary lymphedema with hematological anomalies and an increased risk for myelodysplasia and leukemia. OBJECTIVE: To describe a family with Emberger syndrome with incomplete penetrance. METHODS: A DNA sequencing of GATA2 gene was performed in the parents and offspring (five individuals in...
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