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- W3157656714 abstract "Through the use of new genomic and metabolomic technologies, our comprehension of the molecular and biochemical etiologies of genetic disorders is rapidly expanding, and so are insights into their varying phenotypes. Dosage compensation (lyonization) is an epigenetic mechanism that balances the expression of genes on heteromorphic sex chromosomes. Many studies in the literature have suggested a profound influence of this phenomenon on the manifestation of X-linked disorders in females. In this review, we summarize the clinical and genetic findings in female heterozygotic carriers of a pathogenic variant in one of ten selected X-linked genes whose defects result in metabolic disorders." @default.
- W3157656714 created "2021-05-10" @default.
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- W3157656714 creator A5076399621 @default.
- W3157656714 date "2021-04-26" @default.
- W3157656714 modified "2023-10-03" @default.
- W3157656714 title "Dosage Compensation in Females with X-Linked Metabolic Disorders" @default.
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