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Article

Rett syndrome: clinical manifestations in males with MECP2 mutations.

Journal of child neurology - 1 Jan 2002

Zeev Bruria Ben, Yaron Yuval, Schanen N Carolyn, Wolf Haika, Brandt Nathan, Ginot Nathan, Shomrat Ruth, Orr-Urtreger Avi

Abstract excerpt

Rett syndrome is a neurodevelopmental disorder characterized by cognitive and adaptive regression with autistic features, loss of acquired skills, and stereotypic hand movements that almost exclusively affects females. It is an X-linked dominant disorder, with presumed lethality in males. Nonetheless, there are a few descriptions of males suspected of having Rett syndrome. With the recent discovery that the MECP2...

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Source

Identifiers

PMID: 11913564
DOI: 10.1177/088307380201700105

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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