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
Complete androgen insensitivity syndrome with microtia: a rare presentation
β Scribed by Narvir Singh Chauhan; Yash Paul Sharma; Sanjeev Sharma; Saurabh Sharma
- Book ID
- 107408780
- Publisher
- Springer
- Year
- 2011
- Tongue
- English
- Weight
- 357 KB
- Volume
- 29
- Category
- Article
- ISSN
- 1867-1071
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## Communicated by Bruce Gottlieb We have identified androgen receptor (AR) gene mutations in eight Australian subjects with complete androgen insensitivity syndrome (AIS). Four individuals, from three families, have novel mutations that introduce premature termination codons. Two siblings have th
## Abstract We have studied a patient with complete androgen insensitivity syndrome (CAIS) and a 46, inv(X),Y karyotype. The patient's mother and maternal aunt also carry the inverted X, and the mother is phenotypically normal, with a 46, inv(X),X karyotype, while a maternal aunt has CAIS with a 46