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- W2008333574 abstract "We report a 21 year-old girl with classical Rett syndrome (RS) based on clinical diagnosis. The molecular testing of MECP2 gene revealed that the patient is homozygous for a de novo 473C > T mutation, causing the T158M amino acid change. Chromosome analysis showed a normal karyotype, and the haplotype analysis ruled out the possibility of parental disomy or microdeletion in MECP2 gene. Cultured fibroblast analysis reveals a mosaic for the mutation. This is a documented case of a homozygous female with RS." @default.
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- W2008333574 date "2007-11-01" @default.
- W2008333574 modified "2023-09-24" @default.
- W2008333574 title "Homozygosity for MECP2 gene in a girl with classical Rett syndrome" @default.
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- W2008333574 doi "https://doi.org/10.1016/j.ejmg.2007.07.001" @default.
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