Article
Newborn, carrier, and early childhood screening recommendations for fragile X.
Pediatrics - 1 Dec 2012
Abrams Liane, Cronister Amy, Brown William T, Tassone Flora, Sherman Stephanie L, Finucane Brenda, McConkie-Rosell Allyn, Hagerman Randi, Kaufmann Walter E, Picker Jonathan, Coffey Sarah, Skinner Debra, Johnson Vanessa, Miller Robert, Berry-Kravis Elizabeth
Abstract excerpt
Fragile X syndrome, diagnosed by Fragile X Mental Retardation 1 (FMR1) DNA testing, is the most common single-gene cause of inherited intellectual disability. The expanded CGG mutation in the FMR1 gene, once thought to have clinical significance limited to fragile X syndrome, is now well established as the cause for other fragile X-associated disorders including fragile X-associated primary ovarian insufficiency...
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