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Congenital Thrombotic Thrombocytopenic Purpura: Atypical Presentation and New ADAMTS 13 Mutation in a Tunisian Child

BACKGROUND: Congenital deficiency of ADAMTS13 is characterized by systemic platelet clumping, hemolytic anemia and multiorgan failure. Although, more than 100 mutations have been reported, atypical clinical presentation may be involved in diagnostic difficulties. CASE REPORT: A 2 year old Tunisian c...

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Detalles Bibliográficos
Autores principales: Borgi, A., Khemiri, M., Veyradier, A., Kazdaghli, K., Barsaoui, S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Università Cattolica del Sacro Cuore 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3684349/
https://www.ncbi.nlm.nih.gov/pubmed/23795279
http://dx.doi.org/10.4084/MJHID.2013.041