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Article

Targeted loss of the ATR-X syndrome protein in the limb mesenchyme of mice causes brachydactyly.

Human molecular genetics - 15 Dec 2013

Solomon Lauren A, Russell Bailey A, Watson L Ashley, Beier Frank, Bérubé Nathalie G

Abstract excerpt

ATR-X syndrome is a rare genetic disorder caused by mutations in the ATRX gene. Affected individuals are cognitively impaired and display a variety of developmental abnormalities, including skeletal deformities. To investigate the function of ATRX during skeletal development, we selectively deleted the gene in the developing forelimb mesenchyme of mice. The absence of ATRX in the limb mesenchyme resulted in...

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Source

Identifiers

PMID: 23892236
DOI: 10.1093/hmg/ddt351

Genes

ATRX
ATR

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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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