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Congenital Hypogonadotropic Hypogonadism Due to GNRH Receptor Mutations in Three Brothers Reveal Sites Affecting Conformation and Coupling
Congenital hypogonadotropic hypogonadism (CHH) is characterized by low gonadotropins and failure to progress normally through puberty. Mutations in the gene encoding the GnRH receptor (GNRHR1) result in CHH when present as compound heterozygous or homozygous inactivating mutations. This study identi...
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| Main Authors: | , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Public Library of Science
2012
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3367945/ https://ncbi.nlm.nih.gov/pubmed/22679506 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0038456 |
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