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Article

Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders.

American journal of human genetics - 1 Jul 2002

Plenge Robert M, Stevenson Roger A, Lubs Herbert A, Schwartz Charles E, Willard Huntington F

Abstract excerpt

Some deleterious X-linked mutations may result in a growth disadvantage for those cells in which the mutation, when on the active X chromosome, affects cell proliferation or viability. To explore the relationship between skewed X-chromosome inactivation and X-linked mental retardation (XLMR) disorders, we used the androgen receptor X-inactivation assay to determine X-inactivation patterns in 155 female subjects...

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Identifiers

PMID: 12068376
DOI: 10.1086/341123
PMCID: PMC384975

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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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