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  1. Androgen Insensitivity Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1429
    ... Search term GeneReviews Advanced Search Help < Prev Next > Androgen Insensitivity Syndrome Synonym: Testicular Feminization Bruce Gottlieb , PhD and Mark ... puberty Adapted from Sinnecker et al [1997] Complete androgen insensitivity syndrome (CAIS). Individuals with CAIS have normal female external ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Androgen insensitivity syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  3. 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 >< ...
  4. 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... ...
  5. 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 ...
  6. 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: ...
  7. 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 & ...
  8. 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 ...
  9. GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1116
    ... November 22, 2004; Last Update: June 7, 2018. Androgen Insensitivity Syndrome Bruce Gottlieb and Mark A Trifiro. Initial Posting: ...
  10. PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK573670
    ... PPP1R12A -related UBMS Conditions w/genitourinary abnormalities AR Androgen insensitivity syndrome XL GU abnormalities & sex reversal Lack of multiple ...
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