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Article

R133C and R168X mutations in Japanese Rett syndrome patients: a caution for misdiagnosis.

Brain & development - 1 Dec 2001

Amano K, Nomura Y, Segawa M, Yamakawa K

Abstract excerpt

Rett syndrome is a neurodevelopmental disorder characterized by regression of motor and mental abilities in females after a period of normal development. The gene, MECP2, has been reported to be responsible for Rett syndrome. Here, we report the cases who were at first misdiagnosed as having homozygous mutations, and later corrected as heterozygous ones. We analyzed the MECP2 gene in three sporadic Japanese...

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Source

Identifiers

PMID: 11738863
DOI: 10.1016/s0387-7604(01)00377-1

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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