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Article

A novel ARX loss of function variant in female monozygotic twins is associated with chorea.

European journal of medical genetics - 1 Nov 2021

Rodgers Jonathan, Calvert Sophie, Shoubridge Cheryl, McGaughran Julie

Abstract excerpt

Pathogenic variants in ARX lead to a variety of phenotypes with intellectual disability being a uniform feature. Other features can include severe epilepsy, spasticity, movement disorders, agenesis of the corpus callosum, lissencephaly, hydranencephaly and ambiguous genitalia in males. We present the first report of monozygotic female twins with a de novo ARX pathogenic variant (c.1406_1415del; p....

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Identifiers

PMID: 34419634
DOI: 10.1016/j.ejmg.2021.104315

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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