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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:eLife
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: eLife Sciences Publications, Ltd 2019
Soggetti:
Developmental Biology
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6620045/
https://ncbi.nlm.nih.gov/pubmed/31291191
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.47198
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi