Associated Papers
Functional analysis of SRY variants in individuals with 46,XY differences of sex development.
Idris FP et al.
Molecular and Cellular Endocrinology, 2025
A novel SRY pathogenic variant from a 46,XY female harboring a nonsense point mutation (G to A) in position 293.
Qin S et al.
Clinical Case Reports, 2021
XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing.
Kim A et al.
Pediatrics, 2020
Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective.
Nagaraja MR et al.
Systems Biology in Reproductive Medicine, 2019
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.
Hersmus R et al.
Plos One, 2012
22815844 (PubMed )
Supplement: pone.0040858.s001.xls › Sheet1
Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype.
Paliwal P et al.
Molecular Human Reproduction, 2011
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