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Article

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

BMC medical genetics - 2 Apr 2015

D'Apice Maria Rosaria, Novelli Antonio, di Masi Alessandra, Biancolella Michela, Antoccia Antonio, Gullotta Francesca, Licata Norma, Minella Daniela, Testa Barbara, Nardone Anna Maria, Palmieri Giampiero, Calabrese Emma, Biancone Livia, Tanzarella Caterina, Frontali Marina, Sangiuolo Federica, Novelli Giuseppe, Pallone Francesco

Abstract excerpt

BACKGROUND: Copy number variations (CNVs) can contribute to genetic variation among individuals and/or have a significant influence in causing diseases. Many studies consider new CNVs' effects on protein family evolution giving rise to gene duplicates or losses. "Unsuccessful" duplicates that remain in the genome as pseudogenes often exhibit functional roles. So, changes in gene and pseudogene number may...

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Identifiers

PMID: 25927938
DOI: 10.1186/s12881-015-0164-3
PMCID: PMC4422118

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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