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Article

Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq.

American journal of medical genetics - 3 Jan 2000

Amir R, Dahle E J, Toriolo D, Zoghbi H Y

Abstract excerpt

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that affects females. Exclusion mapping studies using a new family with maternal inheritance of RTT defined Xq28 as the candidate region for the RTT gene. Six candidate genes were selected for mutation analysis based on their established expression patterns and known functions in the CNS. These are: Glutamate receptor subunit 3 (GLUR3), GABA...

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Identifiers

PMID: 10602120

Genes

GABRA3

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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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