16 мая 2024 г. · FMR1 disorders include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency ( ...

1 апр. 2020 г. · The FMR1 gene provides instructions for making a protein called FMRP. Learn about this gene and related health conditions.

The cognitive, behavioral, and physical phenotype varies by sex, with males being more severely affected because of the X-linked inheritance of the mutation.

FMR1 disorders. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. University of Washington, Seattle. Last update Nov 2019; accessed Apr 2024.

This study reviews the clinical manifestations of fragile X-associated disorders as well as the spectrum of mutations of the fragile X mental retardation 1 ...

In most cases, the disorder is caused by the unstable expansion of a CGG repeat in the FMR1 gene and abnormal methylation, which results in suppression of FMR1 ...

15 мая 2024 г. · With each pregnancy, a woman with a premutation in one of her FMR1 genes has a 50% chance of passing on either the premutation or a full ...

A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical ...

1 апр. 2020 г. · Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive ...

2 нояб. 2022 г. · Fragile X Syndrome is caused by a full mutation of the FMR1 gene. Fragile X-associated tremor/ataxia syndrome and primary ovarian ... Testing and Diagnosis · Females · Fxtas · Premutation Carriers