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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
Author(s) -
Jamwal Manu,
Aggarwal Anu,
Sharma Prashant,
Bansal Deepak,
Trehan Amita,
Sachdeva Man Updesh Singh,
Naseem Shano,
Maitra Arindam,
Das Reena
Publication year - 2021
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.29181
Subject(s) - medicine , genetic counseling , phenotype , spectrin , anemia , genetics , hemolytic anemia , genotype , genetic variants , immunology , gene , biology , cytoskeleton , cell