Vassos Neocleous Pavlos Fanis Meropi Toumba George A Tanteles Melpo Schiza Feride Cinarli Nicolas C Nicolaides Anastasis Oulas George M Spyrou Christos S Mantzoros Dimitrios Vlachakis Nicos Skordis Leonidas A Phylactou
10.3389/fendo.2020.00626
Front Endocrinol (Lausanne)
2020 Aug 28;11:626.
gnrh digenic inheritance genes hypogonadotropic hypogonadism next generation sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/32982993/
DNA Helicases / genetics DNA-Binding Proteins / genetics Extracellular Matrix Proteins / genetics Gonadotropin-Releasing Hormone / deficiency Hypogonadism / genetics Membrane Proteins / genetics Nerve Tissue Proteins / genetics Proto-Oncogene Proteins / genetics RNA Polymerase III / genetics Receptor, Fibroblast Growth Factor, Type 1 / genetics Ubiquitin-Protein Ligases / genetics
DNA Helicases / genetics DNA-Binding Proteins / genetics Extracellular Matrix Proteins / genetics Gonadotropin-Releasing Hormone / deficiency Hypogonadism / genetics Membrane Proteins / genetics Nerve Tissue Proteins / genetics Proto-Oncogene Proteins / genetics RNA Polymerase III / genetics Receptor, Fibroblast Growth Factor, Type 1 / genetics Ubiquitin-Protein Ligases / genetics Research Support, Non-U.S. Gov't Adolescent Adult Aged Female High-Throughput Nucleotide Sequencing Humans Male Mutation Pedigree Retrospective Studies Young Adult ANOS1 protein, human DNA-Binding Proteins Extracellular Matrix Proteins Membrane Proteins Nerve Tissue Proteins Proto-Oncogene Proteins WDR11 protein, human Gonadotropin-Releasing Hormone RNF216 protein, human Ubiquitin-Protein Ligases Receptor, Fibroblast Growth Factor, Type 1 POLR3A protein, human RNA Polymerase III DNA Helicases CHD7 protein, human
PMC7485345
32982993
GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the Literature
2020