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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Publicat a:Am J Hum Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2020
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Article
Accés en línia: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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