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Pedigrees of patients 1 and 2. P1 (a) and P2 (b) (arrows) are part of families in which there is history of disease. Several family members were diagnosed by molecular tests (*). In the family of P1 the condition was detected in three generations. In each family the mode of inheritance is dominant and there is significant clinical heterogeneity between family members (see Tables 1 and 2).
