Fragile X syndrome (FXS) is characterized by moderate to severe intellectual disability,
which is accompanied by macroorchidism and distinct facial morphology. FXS is caused by …

Abnormalities in the X-linked FMR1 gene are associated with a constellation of disorders,
which have broad and profound implications for the person first diagnosed, and extended …

Molecular genetic testing of the FMR1 gene is commonly performed in clinical laboratories.
Mutations in the FMR1 gene are associated with fragile X syndrome, fragile X tremor ataxia …

Different mutations occurring in the unstable CGG repeat in 5'untranslated region of FMR1
gene are responsible for three fragile X-associated disorders. An expansion of over∼ 200 …

Purpose: Fragile X syndrome is caused by expansion and methylation of a CGG tract in the
5′ untranslated region of the FMR1 gene. The estimated frequency of expanded alleles (≥ …

The fragile X premutation is a public health concern worldwide. Implementing a
comprehensive screening program for FMR1 premutation alleles could empower individuals …

Fragile X syndrome (FXS) is one of several clinical disorders associated with mutations in
the X-linked Fragile X Mental Retardation-1 (FMR1) gene. With evolving knowledge about …

BACKGROUND: Children with FMR1 gene expansions are known to experience a range of
developmental challenges, including fragile X syndrome. However, little is known about …

FMRP is a multifunctional protein encoded by the Fragile X Messenger Ribonucleoprotein 1
gene (FMR1). The inactivation of the FMR1 gene results in fragile X syndrome (FXS), a …

Abstract Background Fragile X syndrome (FXS), the most common inherited cause of
intellectual disability and autism, is significantly underdiagnosed in the general population …