| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 4166363 | The Journal of Pediatrics | 2009 | 5 Pages |
Abstract
A phenotypic female with complete androgen insensitivity from a maternally inherited mutation in the androgen receptor had a 47,XXY karyotype. Partial maternal X isodisomy explained the expression of androgen insensitivity despite the presence of 2 X chromosomes.
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Authors
C.M. Girardin, C. Deal, E. Lemyre, J. Paquette, R. Lumbroso, L.K. Beitel, M.A. Trifiro, G. Van Vliet,