Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1
- 9 May 2013
- journal article
- case report
- Published by American Society of Hematology in Blood
- Vol. 121 (19), 3925-3935
- https://doi.org/10.1182/blood-2013-02-482489
Abstract
Key Points Dehydrated hereditary stomatocytosis is characterized by abnormal RBC morphology but may involve pseudohyperkalemia and perinatal edema. This syndrome is associated with germline mutations in PIEZO1, encoding a transmembrane protein that induces mechanosensitive currents.Keywords
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