Publication | Open Access

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening

Genetic TestingMendelian DisorderGenetic DisorderMosaic CarriersGeneticsFull MutationGenetic EpidemiologyPediatricsPathologyFragile X SpectrumMedical GeneticsTriplet Repeat StatusMedicineFragile X PremutationDevelopmental Delay