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Article

Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3.

Clinical genetics - 1 Oct 2020

Trimouille Aurélien, Tingaud-Sequeira Angèle, Lacombe Didier, Duelund Hjortshøj Tina, Kreiborg Sven, Buciek Hove Hanne, Rooryck Caroline

Abstract excerpt

Oculo-auriculo-vertebral spectrum (OAVS) [MIM:164210], or Goldenhar syndrome, is a developmental disorder associating defects of structures derived from the first and second branchial arches. The genetic origin of OAVS is supported by the description of rare deleterious variants in a few causative genes, and several chromosomal copy number variations. We describe here a large family with eight male members...

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PMID: 32639022
DOI: 10.1111/cge.13811

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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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