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Study highlights importance of screening for rare inherited iron metabolism defects
Over 40% of cases curated based on stringent clinical and laboratory criteria from the Indian subcontinent have an inherited iron metabolism defect on comprehensive genomic evaluation, report investigators in The Journal of Molecular Diagnostics.
Prateek bhatia
Pankaj sharma
Roberts ohgami
Amita trehan
Department of pathology
University of utah
Postgraduate institute of medical education
Washington university
Molecular diagnostics
Pediatric haematology oncology unit
Postgraduate institute
Medical education
Comprehensive genomic analysis identifies
Diverse landscape
Nonsideroblastic iron related anemias
Pathogenic variants
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