Associated Papers
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 I et al.
Plos One, 2023
Mutational analysis of the androgen receptor (NR3C4) gene in patients with 46,XY DSD.
Ramos L et al.
Gene, 2018
AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3).
Wang Y et al.
Science China. Life Sciences, 2017
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