Fig. 3

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