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Article

High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression.

American journal of medical genetics - 15 Jul 1994

Hagerman R J, Hull C E, Safanda J F, Carpenter I, Staley L W, O'Connor R A, Seydel C, Mazzocco M M, Snow K, Thibodeau S N

Abstract excerpt

Fragile X (fra(X)) males with a standardized IQ score of 70 or higher represent a high functioning (HF) or nonretarded fra(X) male group. This group, which does not include nonpenetrant males, has received little research attention to date. Of 221 fra(X) males who had been evaluated through The Children's Hospital in Denver since 1981 and had completed cognitive or developmental testing, 29 (13%) were high...

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Identifiers

PMID: 7942991
DOI: 10.1002/ajmg.1320510404

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

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