Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.

@article{Aud2010NovelA,
  title={Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.},
  author={L. Aud{\'i} and M. Fern{\'a}ndez-Cancio and A. Carrascosa and P. Andaluz and N. Tor{\'a}n and C. Piro and E. Vilar{\'o} and E. Vicens-Calvet and M. Gussiny{\'e} and M. A. Albisu and D. Yeste and M. Clemente and I. Hern{\'a}ndez de la Calle and M. del Campo and T. Vendrell and A. Blanco and J. Mart{\'i}nez-Mora and M. Granada and I. Salinas and J. Forn and J. Calaf and O. Angerri and M. J. Mart{\'i}nez-Sopena and J. del Valle and E. Garcia and R. Gracia-Bouthelier and P. Lapunzina and E. Mayayo and J. Labarta and G. Lledo and J. S{\'a}nchez del Pozo and J. Arroyo and A. P{\'e}rez-Ayt{\'e}s and M. Beneyto and A. Segura and V. Borr{\'a}s and E. Gabau and M. Caimar{\'i} and A. Rodr{\'i}guez and M. J. Mart{\'i}nez-Aedo and M. Carrera and L. Casta{\~n}o and M. Andrade and J. A. Berm{\'u}dez de la Vega},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2010},
  volume={95 4},
  pages={
          1876-88
        }
}
BACKGROUND Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women [complete androgen insensitivity syndrome (CAIS)] to milder degrees of undervirilization (partial form or PAIS) or men with only infertility (mild form or MAIS). OBJECTIVE The aim of the study was to characterize the contribution of the AR gene to the molecular cause of 46,XY DSD in a series of… Expand
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