Figure 2. Differences in clinical presentation between genetic subgroups of patients.

(A) Age at report of patients with different telomerase or shelterin mutations, as indicated below the panel. (B) The number of disease features observed in the same group of patients. The numbers of subjects (in brackets) differ slightly, reflecting the fact that some information is missing. The disease features that were scored included: abnormal skin pigmentation, nail dystrophy, leucoplakia, AA/cytopenia, immunodeficiency, cancer, oesophageal stenosis/dysphagia, enteropathy, liver disease, splenomegaly, pulmonary disease, epiphora, ear abnormality, deafness, dental decay/loss, hair greying/loss, retinopathy, microcephaly, cerebellar hypoplasia/ataxia, learning disabilities/developmental delay, abnormal facies, intrauterine growth retardation/low birth weight, short stature/growth retardation, aseptic necrosis, osteoporosis, renal disease, gonadal abnormality, phimosis, hyperhiderosis and cardiac disease.