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Article

Closely related Swedish Rett Syndrome females - none with MECP2 mutation revealed.

Neuropediatrics - 1 Aug 2001

Xiang F, Stenbom Y, Anvret M, Hagberg B

Abstract excerpt

Mutations in the MECP2 gene are known to be associated with Rett Syndrome (RTT) in the large majority of sporadic cases. Four Swedish families with a total of eight RTT patients (two in each family), were screened and found negative for MECP2 mutations. The series included females with both classical and forme fruste phenotypes. Rett syndrome thus might still be complex and genetically multifactorial.

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Source

Identifiers

PMID: 11571704
DOI: 10.1055/s-2001-17377

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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