Recurrence risk for sibs of children with "sporadic" achondroplasia.

@article{Mettler2000RecurrenceRF,
  title={Recurrence risk for sibs of children with "sporadic" achondroplasia.},
  author={Gabrielle Mettler and F. Clarke Fraser},
  journal={American journal of medical genetics},
  year={2000},
  volume={90 3},
  pages={250-1}
}
Because of gonadal mosaicism, the risk of recurrence of achondroplasia in the sibs of achondroplastic children with unaffected parents is presumably higher than twice the mutation rate, but it has not been measured. Data from 11 Canadian genetics centers provide an estimate of 1/443, or 0.02%. 

From This Paper

Topics from this paper.

Citations

Publications citing this paper.
Showing 1-9 of 9 extracted citations

Similar Papers

Loading similar papers…