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Idiopathic thrombocytopenia associated with dysgerminoma in a patient with androgen insensitivity syndrome

✍ Scribed by Ozcan Yildiz; Mustafa Ozguroglu


Book ID
113960029
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
47 KB
Volume
99
Category
Article
ISSN
0090-8258

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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