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Infantile cortical hyperostosis and COL1A1 mutation in four generations
Infantile cortical hyperostosis (ICH, OMIM 114000) is a rare familial disorder which affects infants. It spontaneously heals in the first years of life. The disease is characterized by regressive subperiosteal hyperosteogenesis mainly affecting long bones, mandible, clavicles, and ribs which are rem...
Autores principales: | Cerruti-Mainardi, Paola, Venturi, Giacomo, Spunton, Marianna, Favaron, Elena, Zignani, Michela, Provera, Sandro, Dallapiccola, Bruno |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer-Verlag
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3197908/ https://www.ncbi.nlm.nih.gov/pubmed/21567126 http://dx.doi.org/10.1007/s00431-011-1463-0 |
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