1Pazzaglia UE, Beluffi G. Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories. Pediatr Radiol, 1987, 17:50.
2Mansour S, Hall CM, Pembrey ME,et al. A clinical and genetic study of campomelic dysplasia. J Med Genet, 1995, 32:415.
3Sock E, Pagon RA, Keymolen K,et al. Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia. Hum Mol Genet, 2003, 12:1439.
4Giordano J, Prior HM, Bamforth JS,et al. Genetic study of SOX9 in a case of campomelic dysplasia. Am J Med Genet, 2001, 98:176.
5Decsi T, Botykai A. Campomelic dysplasia without campomelia. Padiatr Padol, 1992, 27:29.
6Thong MK, Scherer G, Kozlowski K,et al. Acampomelic campomelic dysplasia with SOX9 mutation. Am J Med Genet, 2000, 93:421.
