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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...

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Detalles Bibliográficos
Autores principales: Cerruti-Mainardi, Paola, Venturi, Giacomo, Spunton, Marianna, Favaron, Elena, Zignani, Michela, Provera, Sandro, Dallapiccola, Bruno
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer-Verlag 2011
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