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Article

De novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver.

Italian journal of pediatrics - 16 Jan 2014

Rapini Novella, Lidano Roberta, Pietrosanti Silvia, Vitiello Giuseppina, Grimaldi Chiara, Postorivo Diana, Nardone Anna Maria, Del Bufalo Francesca, Brancati Francesco, Manca Bitti Maria Luisa

Abstract excerpt

Interstitial deletions of the long arm of chromosome 13 (13q) are related with variable phenotypes, according to the size and the location of the deleted region. The main clinical features are moderate/severe mental and growth retardation, cranio-facial dysmorphism, variable congenital defects and increased susceptibility to tumors. Here we report a 3-year-old girl carrying a de novo 13q13.3-21.32 interstitial...

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Share to Chromosome Deletion
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 13

Share to Diagnosis, Differential

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Share to In Situ Hybridization, Fluorescence

Share to Liver Neoplasms

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Source

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Identifiers

PMID: 24433316
DOI: 10.1186/1824-7288-40-5
PMCID: PMC3896849

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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