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Article

Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers.

European journal of human genetics : EJHG - 1 Nov 2006

Knudsen Gun Peggy S, Neilson Tracey C S, Pedersen June, Kerr Alison, Schwartz Marianne, Hulten Maj, Bailey Mark E S, Orstavik Karen Helene

Abstract excerpt

Rett syndrome is a largely sporadic, X-linked neurological disorder with a characteristic phenotype, but which exhibits substantial phenotypic variability. This variability has been partly attributed to an effect of X chromosome inactivation (XCI). There have been conflicting reports regarding incidence of skewed X inactivation in Rett syndrome. In rare familial cases of Rett syndrome, favourably skewed X...

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PMID: 16823396
DOI: 10.1038/sj.ejhg.5201682

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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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