Fig. 2.

Familiar inheritance of variants in genes related to DNA repair and replication in patients with aplastic anemia and pulmonary fibrosis. Schematic representation of four families of patients (indicated by arrows) affected by aplastic anemia (a-c) or pulmonary fibrosis (d). The number of each family and the variants studied are shown in the upper part of each panel. The presence of the rare variant is indicated as coloured square or circles and the presence of the reference variant by open figures. In panels (c and d) where several variants were studied, their relative position in the diagrams and colour are indicated in the upper part. The number of each family member and its possible pulmonary fibrosis diagnosis (PF) is indicated in the upper part of each symbol. The age, telomere length (kb) and the corresponding percentage of the age-matched population are indicated in the lower part of each symbol