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Article

Loss of U11 small nuclear RNA in the developing mouse limb results in micromelia.

Development (Cambridge, England) - 14 Aug 2020

Drake Kyle D, Lemoine Christopher, Aquino Gabriela S, Vaeth Anna M, Kanadia Rahul N

Abstract excerpt

Disruption of the minor spliceosome due to mutations in RNU4ATAC is linked to primordial dwarfism in microcephalic osteodysplastic primordial dwarfism type 1, Roifman syndrome, and Lowry-Wood syndrome. Similarly, primordial dwarfism in domesticated animals is linked to positive selection in minor spliceosome components. Despite being vital for limb development and size regulation, its role remains unexplored....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32665241
DOI: 10.1242/dev.190967
PMCID: PMC7438004

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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Loss of U11 small nuclear RNA in the developing mouse limb results in micromelia.PMID 32665241Read ↗

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