Developmental enamel defects in tuberous sclerosis: a clinical genetic marker?

  title={Developmental enamel defects in tuberous sclerosis: a clinical genetic marker?},
  author={N. Block. O. Flanagan and W. J. O'Connor and Bernard McCartan and Sarah Johanna Miller and Judy McMenamin and Rosemarie Watson},
  journal={Journal of medical genetics},
  volume={34 8},
Ten probands with tuberous sclerosis (TS) and 20 first degree relatives were examined for evidence of pitted enamel hypoplasia; 100% of TS patients had pitting, compared to 65% of relatives and 72% of 25 controls. We found that 70% of TS cases had more than 14 pits per person compared with only 5% of relatives and 4% of controls; 85% of relatives and 84% of controls had fewer than six pits per person. Our results confirm that significantly increased numbers of dental enamel pits are found in… CONTINUE READING


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