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
46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.
Stoppa-Vaucher S et al.
Clinical Genetics, 2012
Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.
Jordan BK et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.
Okuhara K et al.
Journal of Human Genetics, 2000
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