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Article

Clinical implications of somatic allele expansion in female FMR1 premutation carriers.

Scientific reports - 29 Apr 2023

Aishworiya Ramkumar, Hwang Ye Hyun, Santos Ellery, Hayward Bruce, Usdin Karen, Durbin-Johnson Blythe, Hagerman Randi, Tassone Flora

Abstract excerpt

Carriers of a premutation allele (PM) in the FMR1 gene are at risk of developing a number of Fragile X premutation asssociated disorders (FXPAC), including Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), Fragile X-associated Primary Ovarian Insufficiency (FXPOI), and Fragile X-associated neuropsychiatric disorders (FXAND). We have recently reported somatic CGG allele expansion in female PM; however, its...

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Identifiers

PMID: 37120588
DOI: 10.1038/s41598-023-33528-x
PMCID: PMC10148869

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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