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Article

Two affected boys in a Rett syndrome family: clinical and molecular findings.

Neurology - 24 Oct 2000

Villard L, Kpebe A, Cardoso C, Chelly P J, Tardieu P M, Fontes M

Abstract excerpt

BACKGROUND: The authors report a family in which two boys had severe neonatal encephalopathy of unknown origin. They both presented with the same condition and died of severe apnea before they were 1 year old. Their sister has a classic form of Rett syndrome. METHODS: Because mutations in the met...

Read the complete abstract on PubMed

Topics

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Share to Chromosomal Proteins, Non-Histone
Share to DNA-Binding Proteins
Share to Dosage Compensation, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Methyl-CpG-Binding Protein 2

Share to Polymorphism, Single-Stranded Conformational

Share to Repressor Proteins

Share to Rett Syndrome

Share to X Chromosome

Source

Identifiers

PMID: 11071498
DOI: 10.1212/wnl.55.8.1188

Genes

MECP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11071498-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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