Article
Childhood diagnosis of genetic thrombocytopenia with mutation in the ankyrine repeat domain 26 gene.
European journal of pediatrics - 1 Oct 2015
Boutroux H, Petit A, Auvrignon A, Lapillonne H, Ballerini P, Favier R, Leverger G
Abstract excerpt
UNLABELLED: The most common diagnosis for pediatric thrombocytopenia is immune thrombocytopenia. Nevertheless, in atypical cases, the hypothesis of an inherited thrombocytopenia has to be investigated. We report a series of cases of a newly described entity, genetic thrombocytopenia with mutation in the ankyrine 26 gene, diagnosed from the exploration of five pediatric cases of thrombocytopenia. This entity is...
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