A Rare Cause of Genetic Liver Disease in Children: Transaldolase Deficiency with a Novel Pathogenic Variant in Two Siblings
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Transaldolase deficiency is a rare autosomal recessive disease caused by biallelic mutations in the TALDO1 gene. This disorder is characterized by multisystem involvement, including liver disease. Here, we present 2 siblings with transaldolase deficiency and a... ...
