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Article

[Application of long range polymerase chain reaction and DNA direct sequencing in diagnosis of Rett syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Aug 2007

Li Mei-rong, Pan Hong, Bao Xin-hua, Cao Guang-na, Wu Xi-ru

Abstract excerpt

OBJECTIVE: Rett syndrome (RTT, MIM 312750) is a progressive neurodevelopmental disorder that affects females almost exclusively, caused by mutations in MECP2 gene on chromosome Xq28, with symptoms such as autism, severe mental deficiency, deceleration of head growth, ataxia, loss of purposeful hand function and characteristic stereotypic hand movements. Over 80% MECP2 mutations located in the exon 3 and exon 4...

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Source

Identifiers

PMID: 18021529

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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