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Article

FBLN2 is associated with Goldenhar syndrome and is essential for cranial neural crest cell development

1 Jul 2024

Abstract excerpt

Goldenhar syndrome, a rare craniofacial malformation, is characterized by developmental anomalies in the first and second pharyngeal arches. Its etiology is considered to be heterogenous, including both genetic and environmental factors that remain largely unknown. To further elucidate the genetic cause in a five-generation Goldenhar syndrome pedigree and exploit the whole-exome sequencing (WES) data of this...

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PMID: 38970771
DOI: 10.1111/nyas.15183

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