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Article

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.

American journal of medical genetics. Part A - 1 Oct 2010

Collins Stephen C, Bray Steven M, Suhl Joshua A, Cutler David J, Coffee Bradford, Zwick Michael E, Warren Stephen T

Abstract excerpt

Fragile X syndrome (FXS), the most common inherited form of developmental delay, is typically caused by CGG-repeat expansion in FMR1. However, little attention has been paid to sequence variants in FMR1. Through the use of pooled-template massively parallel sequencing, we identified 130 novel FMR...

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Share to Conserved Sequence
Share to Developmental Disabilities
Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20799337
DOI: 10.1002/ajmg.a.33626
PMCID: PMC2946449

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20799337-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.PMID 20799337Read ↗

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