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9 results
  1. Campomelic Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1760
    ... A heterozygous interstitial deletion or reciprocal translocation of 17q24.3-q25.1 involving SOX9 or its regulatory region ( ... to evaluate for a reciprocal translocation that involves 17q24.3-q25.1 ( SOX9 locus) but does not result ...
  2. Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1416
    ... 2018a ]. Note: A balanced chromosomal translocation involving the 17q24.3 region has also been reported [ Croft et al ... of SOX9 ; a balanced chromosomal translocation involving the 17q24.3 region; or duplication of the entire SOX9 gene ( ...
  3. Catecholaminergic Polymorphic Ventricular Tachycardia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1289
    ... 1 Calsequestrin-2 CASQ2 database CASQ2 CASQ2 KCNJ2 17q24 ​.3 Inward rectifier potassium channel 2 KCNJ2 database KCNJ2 @ ...
  4. Andersen-Tawil Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1264
    ... Locus Protein Locus-Specific Databases HGMD ClinVar KCNJ2 17q24 ​.3 Inward rectifier potassium channel 2 KCNJ2 database KCNJ2 @ ...
  5. Isolated Pierre Robin sequence 
    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 ...
  6. SOX9 gene 
    https://medlineplus.gov/genetics/gene/sox9
    ... Dipple KM, Quintero-Rivera F. Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre ...