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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Pubblicato in:Hum Mutat
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2015
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Article
Accesso online: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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