Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the <i>AMN</i> Gene: A Case Report
Imerslund-Gräsbeck 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...
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: | |
Online Access: | https://www.mdpi.com/1422-0067/20/3/527 |
Similar Items
-
Profound vitamin D deficiency in four siblings with Imerslund‐Grasbeck syndrome with homozygous CUBN mutation
by: Jose I. R. Ciancio, et al.
Published: (2019-09-01) -
Novel pathogenic variants in CUBN uncouple proteinuria from renal function
by: Chun Gan, et al.
Published: (2022-10-01) -
Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases
by: Sandra D.K. Kingma, et al.
Published: (2023-09-01) -
Four missense genetic variants in CUBN are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes: A genetic association study in Europeans
by: Nicoline Uglebjerg, et al.
Published: (2023-02-01) -
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns
by: Tanner Stephan M, et al.
Published: (2012-08-01)