FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

@article{BagheriFam2015FGFR2MI,
  title={FGFR2 mutation in 46,XY sex reversal with craniosynostosis.},
  author={Stefan Bagheri-Fam and Makoto Ono and Li Li and Liang Zhao and Janelle Ryan and Raymond Lai and Yukako Katsura and Fernando J. Rossello and Peter Koopman and Gerd Scherer and Oliver Bartsch and Jacob V.P. Eswarakumar and Vincent R Harley},
  journal={Human molecular genetics},
  year={2015},
  volume={24 23},
  pages={
          6699-710
        }
}
Patients with 46,XY gonadal dysgenesis (GD) exhibit genital anomalies, which range from hypospadias to complete male-to-female sex reversal. However, a molecular diagnosis is made in only 30% of cases. Heterozygous mutations in the human FGFR2 gene cause various craniosynostosis syndromes including Crouzon and Pfeiffer, but testicular defects were not reported. Here, we describe a patient whose features we would suggest represent a new FGFR2-related syndrome, craniosynostosis with XY male-to… 

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