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Article

MECP2 mutations account for most cases of typical forms of Rett syndrome.

Human molecular genetics - 22 May 2000

Bienvenu T, Carrié A, de Roux N, Vinet M C, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J

Abstract excerpt

Rett syndrome (RTT) is a severe progressive neurological disorder that affects almost exclusively females, with an estimated prevalence of approximately one in 10 000-15 000 female births. Most cases are sporadic, but several reports about familial recurrence support X-linked dominant inheritance...

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Source

Identifiers

PMID: 10814719
DOI: 10.1093/hmg/9.9.1377

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10814719-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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