Fig. 1
From: The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases
Schematic of the aggrecan showing the location of mutations and functions of the individual domains. Each of the seven human mutations is indicated (top) in the relevant domains (middle) that each has a specific function (bottom). Key: ISS = idiopathic short stature; SED = spondyloepiphyseal dysplasia; SEMD = spondyloepimetaphyseal dysplasia; OCD = osteochondritis dysplasia; G1 = globular domain 1; G2 = globular domain 2; G3 = globular domain 3; KS = keratin sulphate attachment domain; CS = chondroitin sulphate attachment domain