Litcius/Paper detail

Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism

Leman Damla Kotan, Gaëtan Ternier, Aydilek Dağdeviren Çakır, Hamdi Cihan Emeksiz, İhsan Turan, Gaspard Delpouve, Asli rya De Kardelen, Bahar Özcabı, Emregül Işık, Eda Mengen, Esra niz P. De Cakir, Ayşegül Yüksel, Sebahat Yılmaz Ağladıoğlu, Semine Ozdemir Dilek, Olcay Evliyaoğlu, Feyza Darendelıler, Fatih Gürbüz, Gamze Akkuş, Bilgin Yüksel, Paolo Giacobini, A. Kemal Topaloğlu

2021Genetics in Medicine54 citationsDOIOpen Access PDF

Topics & Concepts

Vomeronasal organKallmann syndromeHypogonadotropic hypogonadismEndocrinologyBiologyInternal medicineExome sequencingMedicineOlfactory systemGeneticsMutationNeuroscienceGeneHormoneInfectious disease (medical specialty)DiseaseCoronavirus disease 2019 (COVID-19)Hypothalamic control of reproductive hormonesAxon Guidance and Neuronal SignalingGrowth Hormone and Insulin-like Growth Factors