Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the AMN 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 (AMN) or cubilin (CUBN) genes have been described in IGS. We describe a...

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Detalles Bibliográficos
Autores principales: Pacitto, Alessandra, Prontera, Paolo, Stangoni, Gabriela, Stefanelli, Maurizio, Ceppi, Stefania, Cerri, Carla, Gurdo, Grazia, Mencarelli, Annalisa, Esposito, Susanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387074/
https://www.ncbi.nlm.nih.gov/pubmed/30691194
http://dx.doi.org/10.3390/ijms20030527

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