Article
Genotype versus phenotype in families with androgen insensitivity syndrome.
The Journal of clinical endocrinology and metabolism - 1 Sept 2001
Boehmer A L, Brinkmann O, Brüggenwirth H, van Assendelft C, Otten B J, Verleun-Mooijman M C, Niermeijer M F, Brunner H G, Rouwé C W, Waelkens J J, Oostdijk W, Kleijer W J, van der Kwast T H, de Vroede M A, Drop S L
Abstract excerpt
Androgen insensitivity syndrome encompasses a wide range of phenotypes, which are caused by numerous different mutations in the AR gene. Detailed information on the genotype/phenotype relationship in androgen insensitivity syndrome is important for sex assignment, treatment of androgen insensitivity syndrome patients, genetic counseling of their families, and insight into the functional domains of the AR. The...
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