Figure 1.
Pedigree of AD DC family with TERC mutation. Molecular analyses were performed on 10 patients, UPN 2 to UPN 11, and all shared the same 74–base pair deletion of the 3′ end of the mature TERC RNA. UPNs 2 and 12 had classical features of this disease and died of hematologic and pulmonary complications prior to the study onset.