Partial androgen insensitivity syndrome with thermolability in the androgen receptor
β Scribed by KENJI HIRAOKA; AKIHIRO KAWAUCHI; JINTETSU SOH; HIROSHI OHE; HIROKI SHIMA; TSUNEHARU MIKI
- Book ID
- 108976941
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 182 KB
- Volume
- 13
- Category
- Article
- ISSN
- 0919-8172
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Mutations of the androgen receptor gene causing androgen insensitivity syndrome in 46, XY individuals, result in phenotypes ranging from complete female to ambiguous genitalia to males with minor degrees of undervirilization. We studied two Brazilian brothers with partial androgen insensitivity synd
Mutations in the androgen receptor (AR) gene result in androgen insensitivity syndrome (AIS). We have identified five novel mutations that result in a complete loss in AR function and are associated with complete AIS. The mutations span all three AR major functional domains. In two cases, the loss o