Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease)
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DOI: 10.1038/s41390-019-0499-0
Abstract: BackgroundInfantile 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… read more here.
Keywords: cortical hyperostosis; fetuin deficiency; deficiency; caffey disease ... See more keywords