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Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease)

BACKGROUND: Infantile cortical hyperostosis (ICH)/Caffey disease is an inflammatory collagenopathy of infancy, manifested by subperiosteal bone hyperplasia. Genetically, ICH was linked with heterozygosity for an R836C mutation in the COL1A1 gene. Although an autosomal-recessive trait is also suspect...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Pediatr Res
Egile Nagusiak: Merdler-Rabinowicz, Rona, Grinberg, Anna, Jacobson, Jeffrey M., Somekh, Ido, Klein, Christoph, Lev, Atar, Ihsan, Salama, Habib, Adib, Somech, Raz, Simon, Amos J.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group US 2019
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7086575/
https://ncbi.nlm.nih.gov/pubmed/31288248
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41390-019-0499-0
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