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5 results
  1. Campomelic Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1760
    ... reciprocal translocation with one breakpoint in chromosome region 17q24.3-q25.1 where SOX9 is located A de ... to identify abnormalities involving the SOX9 locus on 17q24.3-q25.1 and especially in phenotypic females to ...
  2. Nonsyndromic 46,XX Testicular Disorders of Sex Development - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1416
    ... of SOX9 , a balanced chromosomal translocation involving the 17q24.3 region, or duplication of SOX9 (in mosaic or ... of SOX9 ; a balanced chromosomal translocation involving the 17q24.3 region; or duplication of the entire SOX9 gene ) ...
  3. Isolated Pierre Robin sequence: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/isolated-pierre-robin-sequence
    ... Dipple KM, Quintero-Rivera F. Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre ...
  4. Long QT Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1129
    ... database KCNE2 @ ZAC-GGM KCNE2 KCNE2 LQT7 KCNJ2 17q24 ​.3 Inward rectifier potassium channel 2 KCNJ2 database KCNJ2 @ ...
  5. SOX9 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/sox9
    ... Dipple KM, Quintero-Rivera F. Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre ...