Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the <i>AMN</i> Gene: A Case Report

Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the <i>AMN</i> Gene: A Case Report

Imerslund-Gr&#228;sbeck syndrome (IGS) is a rare autosomal recessive disorder clinically characterized by megaloblastic anemia, benign mild proteinuria, and other nonspecific symptoms. Several pathogenetic variants in the amnionless (<i>AMN</i>) or cubilin (<i>CUBN</i>) g...

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Bibliographic Details
Main Authors: Alessandra Pacitto, Paolo Prontera, Gabriela Stangoni, Maurizio Stefanelli, Stefania Ceppi, Carla Cerri, Grazia Gurdo, Annalisa Mencarelli, Susanna Esposito
Format: Article
Language:English
Published: MDPI AG 2019-01-01
Series:International Journal of Molecular Sciences
Subjects:
Imerslund-Gräsbesck syndrome
cobalamin deficiency
macrocytic anemia
proteinuria
amnionless (AMN)
cubilin (CUBN)
Online Access:https://www.mdpi.com/1422-0067/20/3/527

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