Imerslund-Gräsbeck syndrome in a child with a novel compound heterozygous mutations in the AMN gene:...
Imerslund-Gräsbeck syndrome in a child with a novel compound heterozygous mutations in the AMN gene: a case report
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Author / Creator
Zhang, Dedong , Liu, Siying , Xi, Bixin , Zhu, Yongbing , Chen, Yu , Zhang, Jiasi and Liu, Aiguo
Publisher
England: BioMed Central
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central
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Scope and Contents
Contents
Imerslund-Gräsbeck syndrome (IGS) is an autosomal recessive disorder characterized by selective vitamin B12 malabsorption, resulting in vitamin B12 deficiency and impaired reabsorption of proximal tubular proteins.This case highlights a previously unidentified compound heterozygous variant in the Amnionless (AMN) gene that causes IGS syndrome and u...
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Full title
Imerslund-Gräsbeck syndrome in a child with a novel compound heterozygous mutations in the AMN gene: a case report
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_8a48278a04924e15a14959a54cdbc863
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8a48278a04924e15a14959a54cdbc863
Other Identifiers
ISSN
1824-7288,1720-8424
E-ISSN
1824-7288
DOI
10.1186/s13052-024-01757-z
