We describe a unique patient with complete androgen insensitivity syndrome and a 47,XXY karyotype. Androgen receptor assay using cultured pubic skin fibroblasts showed no androgen-binding capacity. Sequence analysis of the androgen receptor gene demonstrated two nonsense mutations, one in exon D and
A search for X-chromosome uniparental disomy and DNA rearrangements in the rett syndrome
โ Scribed by Rivkin, Michael J; Ye, Zhen; Mannheim, Glenn B; Darras, Basil T
- Book ID
- 122684051
- Publisher
- Elsevier Science
- Year
- 1992
- Tongue
- English
- Weight
- 369 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0387-7604
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