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IGF1R mutation analysis in short children with Silver-Russell syndrome features
The insulin-like growth factor 1 receptor (IGF1R) is a key factor in intrauterine and postnatal growth by mediating the biological function of IGF-I. Mutations of IGF1R gene are usually associated with growth retardation, but the clinical picture of IGF1R mutation carriers is heterogeneous. Indeed,...
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| Udgivet i: | J Pediatr Genet |
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| Main Authors: | , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Georg Thieme Verlag KG
2013
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5020970/ https://ncbi.nlm.nih.gov/pubmed/27625849 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-13059 |
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