A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene

@inproceedings{Camats2015ANC,
  title={A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene},
  author={N{\'u}ria Camats and Ala {\"U}styol and Mehmet Emre Atabek and Bernhard Dick and Christa E Fl{\"u}ck},
  booktitle={Clinical case reports},
  year={2015}
}
A novel homozygous long-range deletion of the CYP17A1 gene abolished protein expression and caused the severest form of 17-hydroxylase deficiency in one kindred of a Turkish family. The affected subjects presented with 46,XY sex reversal and 46,XX lack of pubertal development as well as severe hypertension. 

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