Patient | Sex | Age | Gene variant | Family history | Skin, nail anomalies | Hair graying/ loss | Oral mucosal changes | Aplastic anemia/ cytopenias | Immuno-deficiency | Pulmonary fibrosis | Infertility | Gastro-intestinal problems | Developmental defects | Relative telomere lengtha |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P1.1 | M | 24 | DKC1 | + | + | – | + | – | + | – | NA | – | – | short |
P1.2 | M | 28 | DKC1 | + | + | – | + | – | + | – | NA | – | – | short |
P2 | F | 11 | TERT | – | – | – | – | + | – | – | NA | + | + | short |
P3 | M | 2 | RTEL1 | – | + | – | – | – | + | – | NA | + | + | short |