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Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency
The molecular basis of a significant number of cases of isolated growth hormone deficiency remains unknown. We describe three sisters affected with severe isolated growth hormone deficiency and pituitary hypoplasia caused by biallelic mutations in the RNPC3 gene, which codes for a minor spliceosome...
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| Main Authors: | , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Blackwell Publishing Ltd
2014
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3958305/ https://ncbi.nlm.nih.gov/pubmed/24480542 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/emmm.201303573 |
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