Article

Fragile X Syndrome in Brazil: Development and Validation of a Clinical Checklist for Population Screening

2025-10-23

Abstract excerpt

<h4>ABSTRACT</h4> Fragile X Syndrome (FXS) is the most common inherited cause of intellectual disability and syndromic autism, but diagnosis remains challenging due to phenotypic variability and limited access to molecular testing in low- and middle-income countries. We conducted a cohort study of 419 individuals with molecularly confirmed full mutation or mosaicism (364 males, 55 females) from the Buko Kaesemode...

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Literature Corpus work: 5998ddb2-dd1e-5bf4-acdd-bb1e97b32ce4
DOI: 10.1101/2025.10.21.25338500

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