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High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism (CHH) is characterized by lack of normal pubertal development due to deficient gonadotropin-releasing hormone (GnRH) secretion or action, and is caused by genetic defects in several genes. Mutations in the CHD7 gene cause CHARGE syndrome (Coloboma of the eye,...
Autores principales: | Gonçalves, Catarina Inês, Patriarca, Filipa Marina, Aragüés, José Maria, Carvalho, Davide, Fonseca, Fernando, Martins, Sofia, Marques, Olinda, Pereira, Bernardo Dias, Martinez-de-Oliveira, José, Lemos, Manuel Carlos |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367338/ https://www.ncbi.nlm.nih.gov/pubmed/30733481 http://dx.doi.org/10.1038/s41598-018-38178-y |
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