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Article

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

Human molecular genetics - 22 May 2000

Huppke P, Laccone F, Krämer N, Engel W, Hanefeld F

Abstract excerpt

UNLABELLED: Only recently have mutations in MECP2 been found to be a cause of Rett Syndrome (RTT), a neuro-developmental disorder characterized by mental retardation, loss of expressive speech, deceleration of head growth and loss of acquired skills that almost exclusively affects females. We analysed the MECP2 gene in 31 patients diagnosed with RTT. Sequencing of the coding region and the splice sites revealed...

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Source

Identifiers

PMID: 10814718
DOI: 10.1093/hmg/9.9.1369

Genes

MECP2

Variants

Provenance

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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