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Article

Genotype, molecular phenotype, and cognitive phenotype: correlations in fragile X syndrome.

American journal of medical genetics - 2 Apr 1999

Kaufmann W E, Abrams M T, Chen W, Reiss A L

Abstract excerpt

The study of the neurobehavioral consequences of mutations of FMR1, the gene responsible for fragile X syndrome (FraX), has been based largely on correlations between mutation patterns and cognitive profile. Following the characterization of FMRP, the FMR1 gene product, preliminary correlations between FMRP levels, and neurologic phenotype have been established. However, most of these investigations have focused...

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Source

Identifiers

PMID: 10208163

Genes

FMR1

Provenance

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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Genotype, molecular phenotype, and cognitive phenotype: correlations in fragile X syndrome.PMID 10208163Read ↗

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A Paradigm Shifting View of Intellectual Disability: A Near Normal Distribution of IQ in Fragile X SyndromeSemantic proximity Read ↗

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A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients With Neurobehavioral AssessmentsSemantic proximity Read ↗

Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the FMR1 gene.Semantic proximity Read ↗

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