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Article

Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype.

European journal of medical genetics - 1 Jan 2000

Grønskov Karen, Diness Birgitte, Stahlhut Michelle, Zilmer Monica, Tümer Zeynep, Bisgaard Anne-Marie, Brøndum-Nielsen Karen

Abstract excerpt

A common in frame duplication in ARX (c.431_454dup24) was found in a five year-old boy who presented with mild Partington syndrome. The duplication was detected by PCR amplification followed by fragment length analysis and was located in exon 2 spanning the two polyalanine tracts commonly seen to expand. Detection of the duplication by DNA sequencing was difficult due to preferential sequencing of the normal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24727054
DOI: 10.1016/j.ejmg.2014.03.009

Genes

ARX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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