Table 3.

Phenotypic diversity in 28 patients with the A353V dyskerin mutation

Disease category
Phenotype
No. of patients
1   DC ≥ 15 y   8  
2   DC < 15 y   7  
3   DC + AA   9  
4
 		 HH
 		 4
 
Disease category
Phenotype
No. 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.”

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