Articles with "dehydrated hereditary" as a keyword



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A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature

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Published in 2020 at "Italian Journal of Pediatrics"

DOI: 10.1186/s13052-020-00864-x

Abstract: Dehydrated hereditary stomatocytosis (DHS) or hereditary xerocytosis is a rare, autosomal dominant hemolytic anemia characterized by macrocytosis, presence of stomatocytes and dehydration of red blood cells (RBCs). The dehydration is caused by a defect in… read more here.

Keywords: hereditary stomatocytosis; case; dehydrated hereditary; mutation ... See more keywords