Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadot...
Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism
About this item
Full title
Author / Creator
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 and Giacobini, Paolo
Publisher
England: eLife Science Publications, Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: eLife Science Publications, Ltd
Subjects
More information
Scope and Contents
Contents
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-Müllerian hormone (
) and its receptor,
, in 3% of...
Alternative Titles
Full title
Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_8154459b70a345f0a9114ffb9debed28
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8154459b70a345f0a9114ffb9debed28
Other Identifiers
ISSN
2050-084X
E-ISSN
2050-084X
DOI
10.7554/eLife.47198
