title: Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report.
authors: Renal Division and Division of Molecular and Vascular Medicine, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA; Department of Medicine, Harvard Medical School, Boston, MA 02215, USA.
authors: Boris E
authors: BE
authors: Shmukler
authors: David H
authors: DH
authors: Vandorpe
authors: Alicia
authors: A
authors: Rivera
authors: Michael
authors: M
authors: Auerbach
authors: Carlo
authors: C
authors: Brugnara
authors: Seth L
authors: SL
authors: Alper
mesh_terms: D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002414:Cations, Monovalent; D004912:Erythrocytes / Q000378:metabolism* / Q000473:pathology; D005260:Female; D006579:Heterozygote; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D007473:Ion Channels / Q000235:genetics* / Q000378:metabolism; D008564:Membrane Potentials; D009154:Mutation; D009996:Osmotic Fragility; D018408:Patch-Clamp Techniques; D011188:Potassium / Q000378:metabolism; D012964:Sodium / Q000378:metabolism
chemical_list: D002414:Cations, Monovalent; D007473:Ion Channels; C515204:PIEZO1 protein, human; D012964:Sodium; D011188:Potassium