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Mosaicism of a microdeletion of 486 bp involving the CGG repeat of the FMR1 gene due to misalignment of GTT tandem repeats at chi-like elements flanking both breakpoints and a full mutation

ChromatinFmr1 GeneMendelian DisorderCytogeneticsGenetic DisorderGeneticsFull MutationGenome StructureMolecular BiologyMolecular GeneticsGenetic VariationChromosomal RearrangementGenomicsMedicineCgg Repeat