Fig. 3

Pedigree of ten unrelated patients involved in the study. Solid symbols with an arrow – probands; Solid symbols (M/M) – homozygous affected; half-filled symbols (M/+) – heterozygous affected; dotted symbols (M/+) – carrier; unfilled symbol (+/+) – Wild type; Slash through the symbol – deceased, Consanguinity represented by the double line