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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: ryan j. 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.
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.
Croft B, Bird AD, Ono M, Eggers S, Bagheri-Fam S, Ryan JM, Reyes AP, van den Bergen J, Baxendale A, Thompson EM, Kueh AJ, Stanton P, Thomas T, Sinclair AH, Harley VR. Croft B, et al. Among authors: ryan jm. Clin Genet. 2023 Mar;103(3):277-287. doi: 10.1111/cge.14261. Epub 2022 Nov 28. Clin Genet. 2023. PMID: 36349847 Free PMC article.
4,810 results