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Article

FOXI3 pathogenic variants cause one form of craniofacial microsomia

11 Apr 2023

Abstract excerpt

Craniofacial microsomia (CFM; also known as Goldenhar syndrome), is a craniofacial developmental disorder of variable expressivity and severity with a recognizable set of abnormalities. These birth defects are associated with structures derived from the first and second pharyngeal arches, can occur unilaterally and include ear dysplasia, microtia, preauricular tags and pits, facial asymmetry and other...

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PMID: 37041148
DOI: 10.1038/s41467-023-37703-6

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