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Article

Auriculocondylar syndrome: Pathogenesis, clinical manifestations and surgical therapies.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Sept 2023

Li Qingqing, Jiang Zhiyuan, Zhang Liyuan, Cai Siyuan, Cai Zhen

Abstract excerpt

Auriculocondylar syndrome (ARCND) is a genetic and rare craniofacial condition caused by abnormal development of the first and second pharyngeal arches during the embryonic stage and is characterized by peculiar auricular malformations (question mark ears), mandibular condyle hypoplasia, micrognathia and other less-frequent features. GNAI3, PLCB4 and EDN1 have been identified as pathogenic genes in this syndrome...

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Identifiers

PMID: 37208246
DOI: 10.1016/j.jfma.2023.04.024

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