Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism

Congenital hypogonadotropic hypogonadism (CHH) is a condition characterized by absent puberty and infertility due to gonadotropin releasing hormone (GnRH) deficiency, which is often associated with anosmia (Kallmann syndrome, KS). We identified loss-of-function heterozygous mutations in anti-Mülleri...

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Detalles Bibliográficos
Autores principales: Malone, Samuel Andrew, Papadakis, Georgios E, Messina, Andrea, Mimouni, Nour El Houda, Trova, Sara, Imbernon, Monica, Allet, Cecile, Cimino, Irene, Acierno, James, Cassatella, Daniele, Xu, Cheng, Quinton, Richard, Szinnai, Gabor, Pigny, Pascal, Alonso-Cotchico, Lur, Masgrau, Laura, Maréchal, Jean-Didier, Prevot, Vincent, Pitteloud, Nelly, Giacobini, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2019
Materias:
Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6620045/
https://www.ncbi.nlm.nih.gov/pubmed/31291191
http://dx.doi.org/10.7554/eLife.47198

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