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A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis.
Filges I, Kunz C, Miny P, Boesch N, Szinnai G, Wenzel F, Tschudin S, Zumsteg U, Heinimann K. Filges I, et al. Among authors: wenzel f. Fertil Steril. 2011 Oct;96(4):851-5. doi: 10.1016/j.fertnstert.2011.07.1137. Epub 2011 Aug 24. Fertil Steril. 2011. PMID: 21868002 Free article.
265 results