Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.

doi:10.1016/j.ajhg.2012.06.010

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Article

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.

American journal of human genetics - 10 Aug 2012

Froyen Guy, Belet Stefanie, Martinez Francisco, Santos-Rebouças Cíntia Barros, Declercq Matthias, Verbeeck Jelle, Donckers Lene, Berland Siren, Mayo Sonia, Rosello Monica, Pimentel Márcia Mattos Gonçalves, Fintelman-Rodrigues Natalia, Hovland Randi, Rodrigues dos Santos Suely, Raymond F Lucy, Bose Tulika, Corbett Mark A, Sheffield Leslie, van Ravenswaaij-Arts Conny M A, Dijkhuizen Trijnie, Coutton Charles, Satre Veronique, Siu Victoria, Marynen Peter

Abstract excerpt

We previously reported on nonrecurrent overlapping duplications at Xp11.22 in individuals with nonsyndromic intellectual disability (ID) harboring HSD17B10, HUWE1, and the microRNAs miR-98 and let-7f-2 in the smallest region of overlap. Here, we describe six additional individuals with nonsyndromic ID and overlapping microduplications that segregate in the families. High-resolution mapping of the 12 copy-number...

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Identifiers

PMID: 22840365
DOI: 10.1016/j.ajhg.2012.06.010
PMCID: PMC3415555

Genes

HUWE1

Provenance

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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