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Article

Multiple de novo mutations in the MECP2 gene.

Genetic testing - 1 Sept 2008

Bunyan David J, Robinson David O

Abstract excerpt

Rett syndrome is an X-linked dominant disorder that usually arises following a single de novo mutation in the MECP2 gene. Point mutation testing and gene dosage analysis of a cohort of British Rett syndrome patients in our laboratory revealed four females who each had two different de novo causative mutations, presumed to be in cis because the patients showed no deviation from the classical Rett syndrome...

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Source

Identifiers

PMID: 18652533
DOI: 10.1089/gte.2008.0012

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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