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Pedigree of affected Family 1 (a) and Family 2 (b) with ANSD. Sequencing analysis showed that Family member 1-II-1 had the compound heterozygous mutation, c.4748G>A/c.2523+1G>T, and Family member 2-II-1 had the compound heterozygous mutation, c.5248G>C/c.5098G>C. Their parents were heterozygous carriers. Probands are denoted in black (indicated by arrows). WT: wild-type.
