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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Main Authors: Gensure, Robert C., Mäkitie, Outi, Barclay, Catherine, Chan, Catherine, DePalma, Steven R., Bastepe, Murat, Abuzahra, Hilal, Couper, Richard, Mundlos, Stefan, Sillence, David, Ala Kokko, Leena, Seidman, Jonathan G., Cole, William G., Jüppner, Harald
Format: Artigo
Jezik:Inglês
Izdano: American Society for Clinical Investigation 2005
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1087158/
https://ncbi.nlm.nih.gov/pubmed/15864348
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI200522760
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