Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism

Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder characterized by infertility and the absence of puberty. Defects in GnRH neuron migration or altered GnRH secretion and/or action lead to a severe gonadotropin-releasing hormone (GnRH) deficiency. Given the close developmental...

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Publicado no:Am J Hum Genet
Main Authors: Messina, Andrea, Pulli, Kristiina, Santini, Sara, Acierno, James, Känsäkoski, Johanna, Cassatella, Daniele, Xu, Cheng, Casoni, Filippo, Malone, Samuel A., Ternier, Gaetan, Conte, Daniele, Sidis, Yisrael, Tommiska, Johanna, Vaaralahti, Kirsi, Dwyer, Andrew, Gothilf, Yoav, Merlo, Giorgio R., Santoni, Federico, Niederländer, Nicolas J., Giacobini, Paolo, Raivio, Taneli, Pitteloud, Nelly
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7042563/
https://ncbi.nlm.nih.gov/pubmed/31883645
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.12.003
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