Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature

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 res...

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Xehetasun bibliografikoak
Argitaratua izan da:Hum Mutat
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2015
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4382411/
https://ncbi.nlm.nih.gov/pubmed/25703509
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22773
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