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. 2018 Jul 31;27(3):113–121. doi: 10.1297/cpe.27.113

Fig. 2.

Fig. 2.

Unmasking of an autosomal recessive mutation by uniparental isodisomy. The left panel shows a typical autosomal recessive disorder caused by homozygous or compound heterozygous mutations (red and purple stars) transmitted from both parents. The right panel shows an example of autosomal recessive disorders caused by maternal isodisomy encompassing a heterozygous mutation (red stars).