A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders
Infantile cortical hyperostosis (Caffey disease) is characterized by spontaneous episodes of subperiosteal new bone formation along 1 or more bones commencing within the first 5 months of life. A genome-wide screen for genetic linkage in a large family with an autosomal dominant form of Caffey disea...
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| Hoofdauteurs: | , , , , , , , , , , , , , |
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| Formaat: | Artigo |
| Taal: | Engels |
| Gepubliceerd in: |
2005
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| Online toegang: | https://doi.org/10.1172/jci22760 http://www.jci.org/articles/view/22760/files/pdf |
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