Variable Presentation of Primary Hyperoxaluria Type 1 in 2 Patients Homozygous for a Novel Combined Deletion and Insertion Mutation inExon 8 of the AGXT Gene
1998
Two unrelated patients of Pakistani origin presented with primary hyperoxaluria type 1 (PH1) at 4 months and 3 years of age, respectively. While the younger patient failed to thrive and suffered from
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