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Article

An emerging phenotype of proximal 11q deletions.

European journal of medical genetics - 1 Jan 2000

Melis Daniela, Genesio Rita, Cozzolino Mariarosaria, Del Giudice Ennio, Mormile Angela, Imperati Floriana, Ronga Valentina, Della Casa Roberto, Nitsch Lucio, Andria Generoso

Abstract excerpt

Few reports of small interstitial chromosome 11q deletions are reported in the literature and no clear genotype-phenotype correlation has been demonstrated. We describe a five years old boy who was referred to our attention because of the presence of ptosis of the left eyelid, iris coloboma and developmental delay. Clinical examination also revealed the presence of dysmorphic features including: low frontal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromosomes, Human, Pair 11

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Source

Identifiers

PMID: 20688202
DOI: 10.1016/j.ejmg.2010.07.010

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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