Original Research ArticleFragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study
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Keywords
FMR1
fragile X syndrome
intron
methylation
newborn screening
sex chromosome aneuploidy
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© 2013, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics