Total: 1 |
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PMID (PMCID) | ||
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30622824 |
OTHER | |
Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia. | ||
Jacob M, Menon S, Botti C, Marshall I. Case Rep Endocrinol. 2018;2018:7658496. |
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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, which encodes this receptor, cause acromesomelic dysplasia, Maroteaux type (AMDM), a skeletal dysplasia characterized by severe short stature and disproportionate shortening of limbs. |