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Clinical Features of the Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

Specialty:

Genetics

Objective:

ICD-10:

Description:

The Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) is a neurologic disorder that affects males with premutation expansion of CGG repeats in the FMR1 gene. Jacquemont et al identified clinical findings that can identify males who should have genetic testing. The authors are from the University of California Davis, University of Colorado, San Diego State University and Rush-Presbyterian St. Luke's Medical Center (Chicago).

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