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Article

Fragile X syndrome: a hypothesis regarding the molecular mechanism of the phenotype.

American journal of medical genetics - 1 Jan 2000

Warren S T

Abstract excerpt

Among all the human chromosomal fragile sites currently recognized, the fragile site mapping to Xq27.3 is the only one associated with an abnormal phenotype. This phenotype, referred to as the Martin-Bell or fragile X syndrome, has mental retardation as its most important manifestation. We propose that this site is associated with an abnormal phenotype due its location on the X chromosome, particularly it's...

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Identifiers

PMID: 3177478
DOI: 10.1002/ajmg.1320300169

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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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