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  1. Androgen Insensitivity Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1429
    ... Insensitivity Syndrome National Library of Medicine Genetics Home Reference Androgen insensitivity syndrome InterConnect https://interconnect.support/ Molecular Genetics Information in ...
  2. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... Tree - heading 46, XY Disorders of Sex Development Androgen-Insensitivity Syndrome Denys-Drash Syndrome Frasier Syndrome Gonadal Dysgenesis, 46, ... XX Hyperandrogenism 46, XY Disorders of Sex Development Androgen-Insensitivity Syndrome Denys-Drash Syndrome Frasier Syndrome Gonadal Dysgenesis, 46, ...
  3. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... Development, 46,XY C12.706.316.096.500 Androgen-Insensitivity Syndrome C12.706.316.096.562 Denys-Drash Syndrome ... 46,XY C13.351.875.253.096.500 Androgen-Insensitivity Syndrome C13.351.875.253.096.562 Denys-Drash ...
  4. pdf2016MeshTree.pdf 
    https://www.nlm.nih.gov/mesh/2016/download/2016MeshTree.pdf
    ... of Sex Development C12.706.316.096.500...........................................Androgen-Insensitivity Syndrome C12.706.316.096.562...........................................Denys-Drash Syndrome ...
  5. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome</url><title >Androgen insensitivity syndrome</title><other_names >< ...
  6. Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1416
    ... 15(1):77. Epub 2024 Oct 8. Review Androgen Insensitivity Syndrome. [GeneReviews(®). 1993] Review Androgen Insensitivity Syndrome. Gottlieb B, Trifiro MA. GeneReviews(®). 1993 See reviews... ...
  7. Spinal and Bulbar Muscular Atrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1333
    ... atrophy and oligospermia/azoospermia with reduced fertility (see Androgen Insensitivity Syndrome ). Males with SBMA may not be able to ... Disorders Germline single-nucleotide variants in AR cause androgen insensitivity syndrome . Differential Diagnosis A number of hereditary and acquired ...
  8. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Hutterite ... 
    https://www.ncbi.nlm.nih.gov/books/NBK556767
    ... 000469 ​.3 Triggs-Raine et al [2016] AR Androgen insensitivity syndrome XL c.2033T>C p.Leu678Pro ~100% 2 ... pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutteritekindred. Hum Mutat. 1995;5: ...
  9. Nonsyndromic Disorders of Testicular Development Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1547
    ... w/normally formed scrotum. Androgen receptor defects AR Androgen insensitivity syndrome XL Lack of virilization due to impaired androgen binding to androgen receptor or transactivation; incl complete & ...
  10. Resources for Genetics Professionals — Mosaicism - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK585455
    ... mosaicism for gain-of-function variants reported AR Androgen insensitivity syndrome XL Somatic & maternal gonadal mosaicism reported COL1A1 COL1A2 ...
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