Article
Exome sequencing for diagnosis of congenital hemolytic anemia.
Orphanet journal of rare diseases - 8 Jul 2020
Mansour-Hendili Lamisse, Aissat Abdelrazak, Badaoui Bouchra, Sakka Mehdi, Gameiro Christine, Ortonne Valérie, Wagner-Ballon Orianne, Pissard Serge, Picard Véronique, Ghazal Khaldoun, Bahuau Michel, Guitton Corinne, Mansour Ziad, Duplan Mylène, Petit Arnaud, Costedoat-Chalumeau Nathalie, Michel Marc, Bartolucci Pablo, Moutereau Stéphane, Funalot Benoît, Galactéros Frédéric
Abstract excerpt
BACKGROUND: Congenital hemolytic anemia constitutes a heterogeneous group of rare genetic disorders of red blood cells. Diagnosis is based on clinical data, family history and phenotypic testing, genetic analyses being usually performed as a late step. In this study, we explored 40 patients with congenital hemolytic anemia by whole exome sequencing: 20 patients with hereditary spherocytosis and 20 patients with...
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