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Proband 1 inherited exon 1: c.3G>A and exon 1: c.124+1G>C from his father and exon 4: c.509delG from his mother and had no children. Proband 2 inherited a homozygous dynein axonemal assembly factor 1 mutation, exon 7: c.943A>T, from her heterozygous parents and had two daughters by artificial fertilization. The double bar indicates that the proband's parents have the same grandfather.
