Article
Clinical implication of FMR1 intermediate alleles in a Spanish population.
Clinical genetics - 1 Jul 2018
Alvarez-Mora M I, Madrigal I, Martinez F, Tejada M-I, Izquierdo-Alvarez S, Sanchez-Villar de Saz P, Caro-Llopis A, Villate O, Rodríguez-Santiago B, Pérez Jurado L A, Rodriguez-Revenga L, Milà M
Abstract excerpt
FMR1 premutation carriers (55-200 CGGs) are at risk of developing Fragile X-associated primary ovarian insufficiency as well as Fragile X-associated tremor/ataxia syndrome. FMR1 premutation alleles are also associated with a variety of disorders, including psychiatric, developmental, and neurological problems. However, there is a major concern regarding clinical implications of smaller CGG expansions known as...
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