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,...

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Publicado no:Sci Rep
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6367338/
https://ncbi.nlm.nih.gov/pubmed/30733481
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-38178-y
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