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Article

Spectrum of MECP2 mutations in Rett syndrome.

Brain & development - 1 Dec 2001

Lee S S, Wan M, Francke U

Abstract excerpt

Mutations in the methyl-CpG-binding protein 2 gene (MECP2) are identified in the majority of females with Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder. We searched for mutations by sequencing the MECP2 coding region in 45 sporadic cases (35 with classic RTT, eight with variant forms and two males) and in seven families with two or more affected females. Following our previous report of...

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Source

Identifiers

PMID: 11738860
DOI: 10.1016/s0387-7604(01)00339-4

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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