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Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency
Inactivating mutations in chromodomain helicase DNA binding protein 7 (CHD7) cause CHARGE syndrome, a severe multiorgan system disorder of which Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is a minor feature. Recent reports have described predominantly missense CHD7 alleles in IG...
Shranjeno v:
| izdano v: | Proc Natl Acad Sci U S A |
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| Main Authors: | , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
National Academy of Sciences
2014
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4273325/ https://ncbi.nlm.nih.gov/pubmed/25472840 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1417438111 |
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