Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report

BACKGROUND: Imerslund-Gräsbeck Syndrome (IGS) is a rare autosomal recessive disease characterized by intestinal vitamin B12 malabsorption. Clinical features include megaloblastic anemia, recurrent infections, failure to thrive, and proteinuria. Recessive mutations in cubilin (CUBN) and in amnionless...

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Detalles Bibliográficos
Autores principales: Montgomery, Emma, Sayer, John A., Baines, Laura A., Hynes, Ann Marie, Vega-Warner, Virginia, Johnson, Sally, Goodship, Judith A., Otto, Edgar A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4630879/
https://www.ncbi.nlm.nih.gov/pubmed/26040326
http://dx.doi.org/10.1186/s12881-015-0181-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4630879/
https://www.ncbi.nlm.nih.gov/pubmed/26040326
http://dx.doi.org/10.1186/s12881-015-0181-2

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