Table 3.

Phenotypic diversity in 28 patients with the A353V dyskerin mutation

Disease categoryPhenotypeNo. of patients
1 DC ≥ 15 y 8
2 DC < 15 y 7
3 DC + AA 9
4 HH 4
  • The disease categories are explained in the text, under “Phenotypic diversity in patients with A353V.”