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Article

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.

American journal of human genetics - 6 Mar 2014

Homan Claire C, Kumar Raman, Nguyen Lam Son, Haan Eric, Raymond F Lucy, Abidi Fatima, Raynaud Martine, Schwartz Charles E, Wood Stephen A, Gecz Jozef, Jolly Lachlan A

Abstract excerpt

With a wealth of disease-associated DNA variants being recently reported, the challenges of providing their functional characterization are mounting. Previously, as part of a large systematic resequencing of the X chromosome in 208 unrelated families with nonsyndromic X-linked intellectual disability, we identified three unique variants (two missense and one protein truncating) in USP9X. To assess the functional...

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Identifiers

PMID: 24607389
DOI: 10.1016/j.ajhg.2014.02.004
PMCID: PMC3951929

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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