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Article

Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.

European journal of human genetics : EJHG - 1 Sept 2008

Micale Lucia, Fusco Carmela, Augello Bartolomeo, Napolitano Luisa M R, Dermitzakis Emmanouil T, Meroni Germana, Merla Giuseppe, Reymond Alexandre

Abstract excerpt

Williams-Beuren syndrome (WBS) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mapping within the WBS critical region and/or its syntenic mouse region. Three of these genes, TRIM50, TRIM73 and TRIM74, belong to the TRIpartite motif gene family, members...

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Source

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Identifiers

PMID: 18398435
DOI: 10.1038/ejhg.2008.68
PMCID: PMC2680067

Genes

TRIM50
TRIM73
TRIM74

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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