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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Опубликовано в: :Hum Mutat
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: 2015
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Article
Online-ссылка: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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