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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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
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

Internet

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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