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The Role of CHD7 Mutations in Patients with Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome
Mutations in the chromodomain helicase DNA binding protein-7 (CHD7) cause CHARGE syndrome, which includes eye coloboma, heart malformations, atresia of the choanae, retardation of growth/development, genital anomalies, and ear abnormalities. CHARGE syndrome is usually sporadic, but is also autosomal...
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2011
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3924585/ https://ncbi.nlm.nih.gov/pubmed/21856375 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mce.2011.07.013 |
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