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A Large Novel Deletion Downstream of PAX6 Gene in a Chinese Family with Ocular Coloboma

Figure 1

Pedigree and haplotype analysis of the family in this study.

Squares and circles indicated males and females respectively. The symbols in black represent the affected members. The arrow indicates the proband. The square with a line indicated a deceased individual. Haplotype analysis showed loss of heterozygous segregation with D11S914 and D11S995. All markers were listed in descending order from the centromere on chromosome 11p.

Figure 1

doi: https://doi.org/10.1371/journal.pone.0083073.g001