Genomics of iron refractory iron deficiency anemia phenotype reveals a spectrum of novel pathogenic biallelic and monoallelic TMPRSS6 variants and rare overlapping disorders
Author:
Funder
ICMR
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference10 articles.
1. TMPRSS6 gene mutations in six Saudi families with iron refractory iron deficiency anemia;Al-Jamea;Gene,2023
2. Systematic evaluation of paediatric cohort with iron refractory iron deficiency anaemia (IRIDA) phenotype reveals multiple TMPRSS6 gene variations;Bhatia;Br. J. Haematol.,2017
3. Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory;Donker;Am. J. Hematol.,2016
4. Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA);Finberg;Nat. Genet.,2008
5. IRIDA phenotype in TMPRSS6 monoallelic-affected patients: toward a better understanding of the pathophysiology;Hoving;Genes,2022
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1. Novel TMPRSS6 variants and their impact on iron‐refractory iron deficiency anaemia in pregnancy: A North Indian genotype phenotype study;British Journal of Haematology;2024-07-08
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