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Article

Two neighboring microdeletions of 5q13.2 in a child with oculo-auriculo-vertebral spectrum.

European journal of medical genetics - 1 Jan 2000

Huang Xue-shuang, Xiao Ling, Li Xin, Xie Yufang, Jiang Hai-ou, Tan Can, Wang Lei, Zhang Jian-xiang

Abstract excerpt

We describe a patient with multiple congenital anomalies, including hemifacial microsomia, asymmetric macrostomia, dysplastic mandible, multiple preauricular tags, atresia of the external auricular canal, and vertebral anomalies, which coincide with oculo-auriculo-vertebral spectrum. G-banding ( approximately 850 band level) showed a normal 46, XY karyotype. A genome-wide screen for copy number variations (CNVs)...

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

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Source

Identifiers

PMID: 20346424
DOI: 10.1016/j.ejmg.2010.03.004

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OCLN

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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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