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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Hum Mutat |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2015
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| Θέματα: | |
| Διαθέσιμο 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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