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Article

Fragile X and X-linked intellectual disability: four decades of discovery.

American journal of human genetics - 6 Apr 2012

Lubs Herbert A, Stevenson Roger E, Schwartz Charles E

Abstract excerpt

X-Linked intellectual disability (XLID) accounts for 5%-10% of intellectual disability in males. Over 150 syndromes, the most common of which is the fragile X syndrome, have been described. A large number of families with nonsyndromal XLID, 95 of which have been regionally mapped, have been described as well. Mutations in 102 X-linked genes have been associated with 81 of these XLID syndromes and with 35 of the...

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Identifiers

PMID: 22482801
DOI: 10.1016/j.ajhg.2012.02.018
PMCID: PMC3322227

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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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