Figure 1.

(A) Pedigrees for six families. Haplotypes are shown below each individual. Square indicates male, circle indicates female. Filled symbols indicate an individual affected with albinism. M: pathogenic sequence variant previously identified in TYR. For each family the specific change are shown above the pedigree. For clarity, M is placed on top of the haplotype, but this is not necessarily the actual position. (B) Selected SNVs in the haplotype. Chromosomal position are shown on the left, boxes are exons 1, 4 and 5 of TYR, the rs number are shown on the right, and on the far right, the two pathogenic haplotypes.