46,XY disorders of sex development: the use of NGS for prevalent variants
Xie Qigen, Peng Luo, Kai Xia, Zuoqing Li, Zhe Xu, Cheng Su, Chunhua Deng
Topics & Concepts
MicropenisBiologyExome sequencingDisorders of sex developmentMedical geneticsGeneticsMissense mutationKallmann syndromeHuman geneticsExomePhenotypeBioinformaticsInternal medicineGeneHypospadiasMedicineDiseaseInfectious disease (medical specialty)Coronavirus disease 2019 (COVID-19)Sexual Differentiation and DisordersUrological Disorders and TreatmentsGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities