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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Detalles Bibliográficos
Autores principales: Ciancio, Jose I. R., Furman, Mark, Banka, Siddharth, Grunewald, Stephanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718117/
https://www.ncbi.nlm.nih.gov/pubmed/31497480
http://dx.doi.org/10.1002/jmd2.12072

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718117/
https://www.ncbi.nlm.nih.gov/pubmed/31497480
http://dx.doi.org/10.1002/jmd2.12072

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