Profound vitamin D deficiency in four siblings with Imerslund‐Grasbeck syndrome with homozygous CUBN mutation

Imerslund‐Grasbeck syndrome (IGS, OMIM 261100) is a rare autosomal recessive disease characterized by vitamin B12 malabsorption resulting in megaloblastic anemia and asymptomatic proteinuria. IGS is caused by bi‐allelic mutations in either CUBN or AMN that respectively encode the cubilin and amnionl...

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Bibliografiske detaljer
Udgivet i:JIMD Rep
Main Authors: Ciancio, Jose I. R., Furman, Mark, Banka, Siddharth, Grunewald, Stephanie
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley & Sons, Inc. 2019
Fag:
Case Reports
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6718117/
https://ncbi.nlm.nih.gov/pubmed/31497480
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12072
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