Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene. [electronic resource]
Producer: 20081210Description: 2008.e1-4 p. digitalISSN:- 1556-5653
- Adolescent
- Amenorrhea -- genetics
- Androgen-Insensitivity Syndrome -- genetics
- Child
- Female
- Frameshift Mutation
- Genotype
- Gonadal Dysgenesis, 46,XY -- genetics
- Hernia, Inguinal -- genetics
- Humans
- Male
- Mullerian Ducts -- abnormalities
- Mutation, Missense
- Pedigree
- Phenotype
- Receptors, Androgen -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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