Article
Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias.
European journal of haematology - 1 Sept 2018
Shefer Averbuch Noa, Steinberg-Shemer Orna, Dgany Orly, Krasnov Tanya, Noy-Lotan Sharon, Yacobovich Joanne, Kuperman Amir A, Kattamis Antonis, Ben Barak Ayelet, Roth-Jelinek Batia, Chubar Evgeni, Shabad Evelyn, Dufort Gustavo, Ellis Martin, Wolach Ofir, Pazgal Idit, Abu Quider Abed, Miskin Hagit, Tamary Hannah
Abstract excerpt
BACKGROUND: Most patients with anemia are diagnosed through clinical phenotype and basic laboratory testing. Nonetheless, in cases of rare congenital anemias, some patients remain undiagnosed despite undergoing an exhaustive workup. Genetic testing is complicated by the large number of genes involved in rare anemias and the similarities in the clinical presentation of the different syndromes. OBJECTIVE: We aimed...
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