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Article

Characterization of a Familial Goldenhar Syndrome Case Using Whole-Exome Sequencing.

Genes - 28 Feb 2026

Bejaoui Yosra, Al-Sarraj Yasser, Al-Hage Jana, Bitar Fadi F, El Hajj Nady, Nemer Georges, Kurban Mazen

Abstract excerpt

BACKGROUND: Goldenhar syndrome (oculo-auriculo-vertebral spectrum, OAVS) is a rare congenital disorder characterized by craniofacial malformations, systemic anomalies, and significant phenotypic variability. Although it is the second most common craniofacial malformation after a cleft palate, the genetic etiology of Goldenhar syndrome remains largely unexplored. This study aimed to identify genetic variants...

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Topics

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Share to Child, Preschool
Share to DNA Methylation
Share to Epigenesis, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Goldenhar Syndrome

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Share to Mutation, Missense

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Source

Open in PubMed Open full text

Identifiers

PMID: 41898833
DOI: 10.3390/genes17030299
PMCID: PMC13025467

Genes

MID1
NDUFAF8
ZC3H3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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