| 1 | COL1A1, ICHO |
| Expanding the phenotypic spectrum of Caffey disease. | |
| Suphapeetiporn K, Tongkobpetch S, Mahayosnond A, Shotelersuk V. | |
| Clin Genet 71(3):280-4. 2007 | |
| 2 | COL1A1, ICHO |
| A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. | |
| Gensure RC, Makitie O, Barclay C, Chan C, Depalma SR, Bastepe M, Abuzahra H, Couper R, Mundlos S, Sillence D, Ala Kokko L, Seidman JG, Cole WG, Juppner H. | |
| J Clin Invest 115(5):1250-7. 2005 | |
| 3 | ICHO |
| Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis). | |
| Fried K, Manor A, Pajewski M, Starinsky R, Vure E. | |
| Clin Genet 19(4):271-4. No abstract available. 1981 | |