Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia
Endochondral ossification at the level of the growth plate, an essential process involved in longitudinal growth, is regulated by hormonal and local factors including C-type natriuretic peptide and its receptor, natriuretic peptide receptor B. Biallelic loss-of-function mutations in the NPR2 gene, w...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Hindawi Limited
2018-01-01
|
| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2018/7658496 |