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Article

Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases.

Journal of medical genetics - 1 Jun 2004

Kammoun F, de Roux N, Boespflug-Tanguy O, Vallée L, Seng R, Tardieu M, Landrieu P

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15173251
DOI: 10.1136/jmg.2003.014480
PMCID: PMC1735791

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases.PMID 15173251Read ↗

Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome.Semantic proximity Read ↗

Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications.Semantic proximity Read ↗

Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome.Semantic proximity Read ↗

Screening for mutations in the MECP2 (Rett syndrome) gene in Gilles de la Tourette syndrome.Semantic proximity Read ↗

Gene symbol: MECP2. Disease: Rett syndrome (atypical).Semantic proximity Read ↗

[Clinical features in Rett syndrome: MECP2-, CDKL5- and FOXG1- related disorders].Semantic proximity Read ↗

Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.Semantic proximity Read ↗

Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline.Semantic proximity Read ↗

Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome.Semantic proximity Read ↗

Rett syndrome and the MECP2 gene.Semantic proximity Read ↗

De novo MECP2 mutation in a 46,XX male patient with Rett syndrome.Semantic proximity Read ↗

Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls.Semantic proximity Read ↗

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