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Article

5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.

European journal of medical genetics - 1 Jan 2013

Novara Francesca, Alfei Enrico, D'Arrigo Stefano, Pantaleoni Chiara, Beri Silvana, Achille Valentina, Sciacca Francesca L, Giorda Roberto, Zuffardi Orsetta, Ciccone Roberto

Abstract excerpt

Chromosome 5p13 duplication syndrome (OMIM #613174), a contiguous gene syndrome involving duplication of several genes on chromosome 5p13 including NIPBL (OMIM 608667), has been described in rare patients with developmental delay and learning disability, behavioral problems and peculiar facial dysmorphisms. 5p13 duplications described so far present with variable sizes, from 0.25 to 13.6 Mb, and contain a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23085304
DOI: 10.1016/j.ejmg.2012.10.002

Genes

NIPBL

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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