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Article

Ophthalmologic observations in a patient with partial mosaic trisomy 8.

Ophthalmic genetics - 1 Dec 2013

Abu-Amero Khaled K, Kondkar Altaf A, Salih Mustafa A, Al-Husain Muneera, Al Shammari Muneera, Zeidan Ghassan, Oystreck Darren T, Hellani Ali M, Kentab Amal Y, Bosley Thomas M

Abstract excerpt

BACKGROUND: To carefully assess the phenotype and genotype of a patient with partial mosaic trisomy 8 with particular attention to ophthalmologic features. METHODS: Ophthalmologic and neuro-ophthalmologic examination; neuroimaging; conventional karyotyping; and array comparative genomic hybridization (CGH). RESULTS: The proband was the only affected child of a non-consanguineous family. At birth she was noted to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23406309
DOI: 10.3109/13816810.2012.762933

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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