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Familial genotypic and phenotypic heterogeneity and its implications on genetic counseling exemplified in two cases of hereditary pyropoikilocytosis/erythrocytic spectrin-linked hemolytic anemia masquerading as congenital dyserythropoietic anemia.

Manu JamwalAnu AggarwalPrashant SharmaDeepak BansalAmita TrehanMan Updesh Singh SachdevaShano NaseemArindam MaitraReena Das
Published in: Pediatric blood & cancer (2021)
Keyphrases
  • iron deficiency
  • chronic kidney disease
  • single cell
  • genome wide
  • early onset
  • copy number
  • gene expression
  • hepatitis c virus
  • hiv testing