Type II collagenopathies
Definition:
References:
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[1]. Andreas Zankl, et al. Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. Am J Med Genet A. 2005 Feb 15;133A(1):61-7. [Content Brief]
[2]. Anthony M Reginato, et al. The role of structural genes in the pathogenesis of osteoarthritic disorders. Arthritis Res. 2002;4(6):337-45. [Content Brief]
[3]. C A Francomano, et al. Bone dysplasias in man: molecular insights. Curr Opin Genet Dev. 1996 Jun;6(3):301-8. [Content Brief]
[4]. Peter Kannu, et al. Clinical phenotypes associated with type II collagen mutations. J Paediatr Child Health. 2012 Feb;48(2):E38-43. [Content Brief]
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