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- W3048338188 abstract "ABSTRACT Rett syndrome (RTT) is a severe progressive neurodevelopmental disease characterized by psychomotor regression. The FOXG1 gene is one of the pathogenic genes associated with the congenital Rett variant, which is less studied. Only a few Chinese patients with FOXG1 mutation have been reported. In this study, we describe a Chinese female patient with congenital Rett variant who presented with psycho-motor retardation, developmental regression, microcephaly, seizure, stereotypic hand movement and hypotonia. Targeted high-throughput sequencing was conducted, and a heterozygous FOXG1 mutation [NM_005249.4: c.506dupG (P.G169Gfs* 286)] was identified. It was a frameshift mutation resulting in alteration of the reading frames downstream of the mutation. SIMILAR CASES PUBLISHED: 10. CONFLICT OF INTEREST: None." @default.
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- W3048338188 date "2020-07-01" @default.
- W3048338188 modified "2023-09-24" @default.
- W3048338188 title "A case of congenital Rett variant in a Chinese patient caused by a <i>FOXG1</i> mutation" @default.
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- W3048338188 doi "https://doi.org/10.5144/0256-4947.2020.347" @default.
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