A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma.

@article{Cost2009ANS,
  title={A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma.},
  author={Nicholas G Cost and Aaron T Ludwig and Duncan T Wilcox and Dinesh Rakheja and Steven J. Steinberg and Linda A Baker},
  journal={Journal of pediatric surgery},
  year={2009},
  volume={44 2},
  pages={451-4}
}
An 8-year-old phenotypic female with campomelic dysplasia (CD) and 46,XY sex-reversal presented with renal colic. Medullary nephrocalcinosis, urolithiasis, and renal malrotation were diagnosed by computed tomographic scanning. Pelvic sonogram identified an enlarged left gonad. Genetic testing revealed a novel SOX9 heterozygous deletion of a cytosine at nucleotide 972 (972delC), causing a frameshift at codon 200, introducing a stop codon 18 codons further downstream (P200fsX218). At laparoscopic… CONTINUE READING

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3 Excerpts

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