Article

A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants: differential diagnosis and recommendation for biochemical and genetic screening.

2023-08-30

Abstract excerpt

There are several known forms of congenital erythrocytosis. Secondary forms are usually associated with increased erythropoietin levels and recognize heterogeneous genetic basis. Despite the use of NGS technologies, more than 50% of congenital erythrocytosis cases are still classified as idiopathic. Identifying the underling molecular cause appears to be crucial when a therapeutic option is available, especially i...

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Literature Corpus work: 07504821-fd81-555d-99cd-6b418a956878
DOI: 10.22541/au.169338967.78384848/v1

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