Loss-of-Function Mutations in SEMA3F and gePLXNA3 Encoding Semaphorin-3F and its Receptor Plexin-A3 Respectively Cause Idiopathic Hypogonadotropic Hypogonadism

Idiopathic hypogonadotropic hypogonadism (IHH) is a rare genetic condition characterized by absent puberty and infertility due to gonadotropin-releasing hormone (GnRH) deficiency. IHH can be accompanied by normal (normosmic IHH, nIHH) or compromised olfaction (Kallmann syndrome, KS). Several semapho...

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Publicado en:Genet Med
Main Authors: Kotan, Leman Damla, Ternier, Gaetan, Cakir, Aydilek Dagdeviren, Emeksiz, Hamdi Cihan, Turan, ihsan, Delpouve, Gaspard, Kardelen, Asli Derya, Ozcabi, Bahar, Isik, Emregul, Mengen, Eda, Cakir, Esra Deniz P., Yuksel, Aysegul, Agladioglu, Sabahat Yilmaz, Dilek, Semine Ozdemir, Evliyaoglu, Olcay, Darendeliler, Feyza, Gurbuz, Fatih, Akkus, Gamze, Yuksel, Bilgin, Giacobini, Paolo, Kemal Topaloglu, A.
Formato: Artigo
Idioma:Inglês
Publicado: 2021
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7612467/
https://ncbi.nlm.nih.gov/pubmed/33495532
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-01087-5
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