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

BACKGROUND: 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 cellular cation content. The mos...

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Detalles Bibliográficos
Autores principales: Zama, Daniele, Giulietti, Giulia, Muratore, Edoardo, Andolfo, Immacolata, Russo, Roberta, Iolascon, Achille, Pession, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7379360/
https://www.ncbi.nlm.nih.gov/pubmed/32703298
http://dx.doi.org/10.1186/s13052-020-00864-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7379360/
https://www.ncbi.nlm.nih.gov/pubmed/32703298
http://dx.doi.org/10.1186/s13052-020-00864-x

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