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[FMR1 PREMUTATION CARRIERS - ARE THEY REALLY ASYMPTOMATIC?]

Harefuah - 1 Apr 2018

Elizur Shai, Berkenstadt Michal, Ries-Levavi Liat, Gruber Noah, Pinhas-Hamiel Orit, Hassin-Baer Sharon, Raas-Rothschild Annick, Raanani Hila, Cukierman-Yaffe Tali, Orvieto Raoul, Cohen Yoram, Gabis Lidia

Abstract excerpt

INTRODUCTION: Fragile X Syndrome (FXS), the most common form of inherited mental retardation, is caused by a trinucleotide repeat expansion (CGG) in the 5'-untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene located at Xq27.3. Patients with fragile X -related mental retardation, carry the full mutation CGG-repeat expansions (>200 CGG repeats), which are generally accompanied by hypermethylation...

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PMID: 29688643

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FMR1
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Source receipt: pubmed, retrieved 7 Sept 2026.

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