Phenotypic Heterogeneity Associated with Identical Mutations in Residue 870 of the Androgen Receptor

  title={Phenotypic Heterogeneity Associated with Identical Mutations in Residue 870 of the Androgen Receptor},
  author={J. Zenteno and B. Ch{\'a}vez and F. Vilchis and S. Kofman-alfaro},
  journal={Hormone Research in Paediatrics},
  pages={90 - 93}
  • J. Zenteno, B. Chávez, +1 author S. Kofman-alfaro
  • Published 2002
  • Biology, Medicine
  • Hormone Research in Paediatrics
  • Background/Aims: Mutations in the androgen receptor (AR) gene result in an X-linked recessive form of male pseudohermaphroditism known as the androgen-insensitivity syndrome (AIS). The alterations most frequently observed are missense or nonsense point mutations in exons 4–8 of the AR gene that affect the steroid-binding domain of the receptor in subjects with various degrees of androgen resistance. Despite the increasing number of AR mutations identified, a reliable genotype-phenotype… CONTINUE READING
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