• 5α-Reductase-2 gene mutations in the Dominican Republic . 

      Cai, LiQun; Zhu, Yuan Shan; Katz, Melissa D.; Herrera, Cecilia; Baéz, José; Defilló Ricart, Mariano; Shackleton, Cedric; Imperato McGinley, J. (Journal of Clinical Endocrinology and Metabolism, 1996)
      Male pseudohermaphroditism due to 5α-reductase deficiency was clinically and biochemically described in a large Dominican kindred of 23 families with 38 affected subjects in 1974. Recently, the 5α-reductase-2 gene defect ...
    • A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters. 

      Stavrou, Stavros S.; Zhu, Yuan Shan; Cai, LiQun; Katz, Melissa D.; Herrera, Cecilia; Defilló Ricart, Mariano; Imperato McGinley, J. (Journal of Clinical Endocrinology and Metabolism, 1998)
      We repor t a novel homozygous mutation of the LH receptor (LHR) gene in three siblings: two 46XY and one 46XX. The 46XY siblings presented with female external genitalia, primary amenorrhea, and lack of breast development. ...