Article

Hereditary dehydrated stomatocytosis with new missense mutations in PIEZO1 through the use of next-generation sequencing panel

2024-01-31

Abstract excerpt

Dehydrated hereditary stomatocytosis (DHS) is characterized by alterations of ionic flux with increased cation permeability. Although the clinical presentation of DHS is commonly variable, all of them present hemolysis and anemia, which may range from mild to severe. Like all hemolytic anemias, jaundice, pallor, fatigue, splenomegaly, and gallstones are the key signs. The causative genes have been identified on AB...

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Literature Corpus work: 3df14736-917d-5e06-aaca-b185c1a6e477
DOI: 10.22541/au.170666175.51686391/v1

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