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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...
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| Publicado no: | Pediatr Res |
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| Principais autores: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group US
2019
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| Assuntos: | |
| Acesso em linha: | 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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