Czech dysplasia
Definition:
Czech dysplasia is an autosomal-dominant disorder characterized by an early-onset, progressive spondyloarthropathy with normal stature. Shortness of third and/or fourth toes is a frequently observed clinical feature. Czech dysplasia is caused by a specific missense mutation (R275C) in the COL2A1 gene.
References:
-
[1]. Andreas Tzschach, et al. Czech dysplasia: report of a large family and further delineation of the phenotype. Am J Med Genet A. 2008 Jul 15;146A(14):1859-64. [Content Brief]
[2]. Kristien P Hoornaert, et al. Czech dysplasia metatarsal type: another type II collagen disorder. Eur J Hum Genet. 2007 Dec;15(12):1269-75. [Content Brief]
Biomedical Dictionary
The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.
Molarity Calculator
Dilution Calculator
