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Case Reports
. 2021 Sep 1;96(9):E318-E321.
doi: 10.1002/ajh.26245. Epub 2021 Jun 2.

Multiple thrombosis in a patient with Gardos channelopathy and a new KCNN4 mutation

Lamisse Mansour-Hendili  1   2 , Stéphane Egée  3   4 , David Monedero-Alonso  3   4 , Guillaume Bouyer  3   4 , Bertrand Godeau  5   6 , Bouchra Badaoui  7 , Ariane Lunati  1   6 , Clara Noizat  1 , Abdelrazak Aissat  1   6 , Laurent Kiger  2 , Chadia Mekki  1 , Véronique Picard  8 , Stéphane Moutereau  1   2 , Pascale Fanen  1   6 , Pablo Bartolucci  2   9 , Loïc Garçon  10   11   12 , Frédéric Galactéros  2   9 , Benoît Funalot  1   6
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Free article
Case Reports

Multiple thrombosis in a patient with Gardos channelopathy and a new KCNN4 mutation

Lamisse Mansour-Hendili et al. Am J Hematol. .
Free article
No abstract available

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References

REFERENCES

    1. Picard V, Guitton C, Thuret I, et al. Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos-channelopathy: a retrospective series of 126 patients. Haematologica. 2019;104(8):1554-1564. https://doi.org/10.3324/haematol.2018.205328
    1. Kaestner L, Bogdanova A, Egee S. Calcium channels and calcium-regulated channels in human red blood cells. Adv Exp Med Biol. 2020;1131:625-648. https://doi.org/10.1007/978-3-030-12457-1_25
    1. Fermo E, Bogdanova A, Petkova-Kirova P, et al. ‘Gardos Channelopathy’: a variant of hereditary stomatocytosis with complex molecular regulation. Sci Rep. 2017;7(1):1744-1744. https://doi.org/10.1038/s41598-017-01591-w
    1. Fermo E, Mondedero-Alonso D, Petkova-Kirova P, et al. Gardos channelopathy: functional analysis of a novel KCNN4 variant. Blood Adv. 2020;4(24):6336-6341.
    1. Mansour-Hendili L, Aissat A, Badaoui B, et al. Exome sequencing for diagnosis of congenital hemolytic anemia. Orphanet J Rare Dis. 2020;15(1):180. https://doi.org/10.1186/s13023-020-01425-5

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