Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in the SLC25A15 gene
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DOI: 10.3389/fgene.2022.1004598
Abstract: Background: Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome, is a rare autosomal recessive disorder characterized by impaired ornithine transport across the inner mitochondrial membrane. HHH is caused by biallelic disease-causing variants in the SLC25A15 gene. The clinical presentation of… read more here.
Keywords: clinical heterogeneity; slc25a15 gene; hyperammonemia homocitrullinuria; hyperornithinemia hyperammonemia ... See more keywords