Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations - Martinez de Lapiscina, Idoia; Kouri, Chrysanthi; Aurrekoetxea, Josu; Sanchez, Mirian; Naamneh Elzenaty, Rawda; Sauter, Kay-Sara; Camats, Núria; Grau, Gema; Rica, Itxaso; Rodriguez, Amaia; Vela, Amaia; Cortazar, Alicia; et al. (PloS one, 2023)
Keywords: Algorithms; Analysis; Biology and Life Sciences; Cryptorchidism; Disease; Disease susceptibility; Fibroblast growth factor receptors; Functional testing; Gene frequency; Genes; Genetic polymorphisms; Genetic screening; Genomics; Genotype & phenotype; Medicine and Health Sciences; Methods; Mutation; Next-generation sequencing; Pathogenesis; Patients; Phenotypes; Polygenic inheritance; Polymorphism; Population genetics; Proteins; Reproductive organs; Sex; Software; Susceptibility; Type 2 diabetes; Spain