Autor: Fei Tong

Case Report: Type II tyrosinemia caused by mutations at the c.843_844 inv p.(Trp282Gly) variant locus

Mar 12, 2026

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por

Fei Tong

en Articulos, Case Report, Enfermedades Raras, Frontiers in Genetics

ObjectiveTo identify the genetic etiology in a neonate with persistent hypertyrosinemia and characterize the functional impact of a novel TAT gene variant, c.843_844inv.MethodsA neonate suspected of having tyrosinemia type II following newborn screenin…