Functional study of a novel c.630delG (p.Y211Tfs*85) mutation in NR5A1 gene in a Chinese boy with 46,XY disorders of sex development
Sinian Pan, Shili Guo, Liting Liu, Xiaoyuan Yang, Hanmei Liang
Topics & Concepts
MutationSteroidogenic factor 1Frameshift mutationBiologyGeneGeneticsGene mutationMolecular biologyCompound heterozygosityTranscription factorNuclear receptorSexual Differentiation and DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesHypothalamic control of reproductive hormones