Article
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.
Human mutation - 1 Apr 2015
Wang Sophie R, Jacobsen Christina M, Carmichael Heather, Edmund Aaron B, Robinson Jerid W, Olney Robert C, Miller Timothy C, Moon Jennifer E, Mericq Veronica, Potter Lincoln R, Warman Matthew L, Hirschhorn Joel N, Dauber Andrew
Abstract excerpt
Based on the observation of reduced stature in relatives of patients with acromesomelic dysplasia, Maroteaux type (AMDM), caused by homozygous or compound heterozygous mutations in natriuretic peptide receptor-B gene (NPR2), it has been suggested that heterozygous mutations in this gene could be responsible for the growth impairment observed in some cases of idiopathic short stature (ISS). We enrolled 192...
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