Clinical and molecular characteristics of imerslund-gräsbeck syndrome: First report of a novel Frameshift variant in Exon 11 of AMN gene.

Mohamed ElshinawyHarry H GaoDana M Al-NabhaniKhalid A Al-Thihli

Published in: International journal of laboratory hematology (2021)

In communities with high incidence of consanguinity, cases of early-onset vitamin B12 deficiency should be thoroughly investigated to explore the possibility of Imerslund-Gräsbeck syndrome and other vitamin B12-related hereditary disorders. Further local and regional studies are highly recommended.

Keyphrases

early onset
late onset
case report
risk factors
genome wide
copy number
gene expression
dna methylation
high resolution
replacement therapy
genome wide identification
drug induced
smoking cessation