Article

Two cases of Imerslund-Grasbeck syndrome with AMN gene mutation: A case report

2022-03-31

Abstract excerpt

Imerslund-Grasbeck syndrome is a rare autosomal recessive disease mainly characterized by megaloblastic anemia and proteinuria. Herein, we reported two cases presenting with anemia and growth retardation. Especially, case 1 manifested proteinuria and case 2 was diagnosed with α-thalassemia. The whole gene sequencing confirmed that they harbored the same homozygous mutation in the AMN gene (c.C742T). Both of them s...

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Literature Corpus work: 961d4d04-28d8-51ac-9dfd-4cb97acf43cf
DOI: 10.22541/au.164873503.32321292/v1

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