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a Pedigree of the Italian family and compound heterozygosity of the proband, formed by the c.10156dupA mutation, inherited from the proband's father and also present in his sister, and the c.8697–9A>G mutation, inherited from the mother. In black the 2 mutations are shown and in white the wild type alleles (WT). b The proband at 2.5 years of age.
