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Article

Genotype-phenotype correlation in 13q13.3-q21.3 deletion.

European journal of medical genetics - 1 Jan 2000

Tosca Lucie, Brisset Sophie, Petit François M, Metay Corinne, Latour Stéphanie, Lautier Benoît, Lebas Axel, Druart Luc, Picone Olivier, Mas Anne-Elisabeth, Prévot Sophie, Tardieu Marc, Goossens Michel, Tachdjian Gérard

Abstract excerpt

Pure interstitial deletions of the long arm of chromosome 13 are correlated with variable phenotypes according to the size and the location of the deleted region. Deletions involving the 13q13q21 region are rare. In order to establish interstitial 13q genotype-phenotype correlation, we used high resolution 244K oligonucleotide array in addition to conventional karyotype and molecular (fluorescent in situ...

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

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Source

Identifiers

PMID: 21741501
DOI: 10.1016/j.ejmg.2011.06.004

Genes

CKAP2
DCLK1
SMAD9
SUGT1

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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