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Article

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

Human molecular genetics - 12 Apr 2000

Cheadle J P, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper D N, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson J R, Clarke A

Abstract excerpt

Mutations in the methyl-CpG-binding protein gene MECP2 at Xq28 cause Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder characterized by a period of stagnation followed by regression in the development of young girls. Mutations were sought in MECP2 in 48 females with classical...

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Source

Identifiers

PMID: 10767337
DOI: 10.1093/hmg/9.7.1119

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-10767337-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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