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Article

16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation.

European journal of medical genetics - 1 Mar 2017

Ciaccio Claudia, Tucci Arianna, Scuvera Giulietta, Estienne Margherita, Esposito Susanna, Milani Donatella

Abstract excerpt

The short arm of chromosome 16 is one of the less stable regions of our genome, as over 10% of the euchromatic region of 16p is composed of highly complex low copy repeats that are known to be predisposed to rearrangements mediated by non-allelic homologous recombination. The 16p13.3p13.13 molecular region has been defined as the 16p duplication hotspot, and duplications of chromosome 16p13 have recently been...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28007608
DOI: 10.1016/j.ejmg.2016.12.006

Genes

CREBBP

Provenance

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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