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FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
Bagheri-Fam S, Ono M, Li L, Zhao L, Ryan J, Lai R, Katsura Y, Rossello FJ, Koopman P, Scherer G, Bartsch O, Eswarakumar JV, Harley VR. Bagheri-Fam S, et al. Among authors: harley vr. Hum Mol Genet. 2015 Dec 1;24(23):6699-710. doi: 10.1093/hmg/ddv374. Epub 2015 Sep 11. Hum Mol Genet. 2015. PMID: 26362256 Free PMC article.
Loss of Fgfr2 leads to partial XY sex reversal.
Bagheri-Fam S, Sim H, Bernard P, Jayakody I, Taketo MM, Scherer G, Harley VR. Bagheri-Fam S, et al. Among authors: harley vr. Dev Biol. 2008 Feb 1;314(1):71-83. doi: 10.1016/j.ydbio.2007.11.010. Epub 2007 Nov 19. Dev Biol. 2008. PMID: 18155190 Free article.
156 results