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Article

The phenotypic spectrum of ARX mutations.

Developmental medicine and child neurology - 1 Feb 2005

Suri Mohnish

Abstract excerpt

Mutations in the ARX gene can result in many different phenotypes, including phenotypes associated with severe brain malformations and less severe phenotypes associated with syndromic or non-syndromic forms of XLMR. There seems to be a consistent genotype-phenotype correlation and both interfamilial and intrafamilial variability of expression of some of the mutations, particularly the common 428-451dup(24 bp)...

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Source

Identifiers

PMID: 15707237
DOI: 10.1017/s001216220500023x

Genes

ARX

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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