Heterozygous Mutations in Natriuretic Peptide Receptor‐B (NPR2) Gene as a Cause of Short Stature. Issue 4 (16th March 2015) - Wang, Sophie R.
Abstract Segregation of identified NPR2 nonsynonymous variants in affected families. Numbers below the individuals denote the height z scores. + indicates family members who also carry the TRPV4 mutation causal of brachyolmia. ^ indicates that this family member was treated with growth hormone therapy prior to this height measurement and had a nadir height of −2.8 SDS. * indicates that the height was estimated by a family member. All other values were measured. Individuals with short stature are indicated as black circles (females) or squares (males). The arrow points to the affected proband in each family.