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Article

Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.

Journal of genetic counseling - 1 Dec 2012

Finucane Brenda, Abrams Liane, Cronister Amy, Archibald Alison D, Bennett Robin L, McConkie-Rosell Allyn

Abstract excerpt

Fragile X syndrome (FXS) is one of several clinical disorders associated with mutations in the X-linked Fragile X Mental Retardation-1 (FMR1) gene. With evolving knowledge about the phenotypic consequences of FMR1 transcription and translation, sharp clinical distinctions between pre- and full mutations have become more fluid. The complexity of the issues surrounding genetic testing and management of...

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Identifiers

PMID: 22797890
DOI: 10.1007/s10897-012-9524-8

Genes

FMR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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