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Novel mutation in forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome.
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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
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[FOXG1, a new gene responsible for the congenital form of Rett syndrome].
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Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum.
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Rett syndrome.
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本文引用的文献
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A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.
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The story of Rett syndrome: from clinic to neurobiology.
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MECP2 deletions and genotype-phenotype correlation in Rett syndrome.
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The role of Foxg1 and dorsal midline signaling in the generation of Cajal-Retzius subtypes.
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Italian Rett database and biobank.
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The timing of cortical neurogenesis is encoded within lineages of individual progenitor cells.
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Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.
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Foxg1 is required for specification of ventral telencephalon and region-specific regulation of dorsal telencephalic precursor proliferation and apoptosis.
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CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.
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Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.
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