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Article

Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2021

Domniz Noam, Levavi Liat Ries, Berkenstadt Michal, Pras Elon, Cohen Yoram, Raanani Hila, Goldstein Dana Brabbing, Yaron Yuval, Elizur Shai, Ben-Shachar Shay

Abstract excerpt

PURPOSE: To evaluate whether ethnicity affects the risk of full mutation expansion among females heterozygous for FMR1 premutation. METHODS: Women who carry the FMR1 premutation alelle of Jewish origin who underwent fragile X prenatal diagnosis between 2011 and 2018 in two medical centers in Israel were included. The heterozygote women and fetuses were analyzed for the number of CGG repeats and AGG interruptions....

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Identifiers

PMID: 33473206
DOI: 10.1038/s41436-020-01089-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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