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Article

A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1.

Clinical genetics - 1 Dec 2006

Chunshu Y, Endoh K, Soutome M, Kawamura R, Kubota T

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17101000
DOI: 10.1111/j.1399-0004.2006.00712.x

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1.PMID 17101000Read ↗

Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation.Semantic proximity Read ↗

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

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

Rett Syndrome: A Timely Review From Recognition to Current Clinical Approaches and Clinical Study Updates.Semantic proximity Read ↗

A RETT SYNDROME CASE WITH NOVEL NON-IDENTICAL MUTATION IN MECP2 GENE.Semantic proximity Read ↗

Another patient with MECP2 mutation without classic Rett syndrome phenotype.Semantic proximity Read ↗

Rett syndrome and the MECP2 gene.Semantic proximity Read ↗

Novel clinical finding in MECP2 duplication syndrome.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 ↗

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

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

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

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