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Article

The FRAXopathies: definition, overview, and update.

American journal of medical genetics. Part A - 1 Aug 2011

Pirozzi Filomena, Tabolacci Elisabetta, Neri Giovanni

Abstract excerpt

The fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency are conditions related to the X chromosome folate-sensitive fragile site FRAXA. Therefore, we propose that they are considered as a family of disorders under the general designation of FRAXopathies. The present review will outline the main clinical and molecular features of these disorders, with special emphasis on the...

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Identifiers

PMID: 21739597
DOI: 10.1002/ajmg.a.34113

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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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