Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations
Figure 5
Expression and biochemical results.
A) CNP plasma concentration in patient 2, his parents and three controls. The concentration of the peptide was increased more than 4-fold in the propositus compared to parents and unrelated controls (n = 3). B) Analysis of NPPC expression by real-time PCR analysis in lymphoblasts from patient and his parents. The expression of NPPC in the propositus was remarkably higher compared to those of his father and mother.