Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report

• Main Authors: Xiaoliang Liu (Author), Wei Sun (Author), Jun Wang (Author), Guoming Chu (Author), Rong He (Author), Bijun Zhang (Author), Yanyan Zhao (Author)
• Format: Book
• Published: BMC, 2021-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Auriculocondylar syndrome (ACS) is a rare disorder characterized by micrognathia, mandibular condyle hypoplasia, and auricular abnormalities. Only 6 pathogenic variants of GNAI3 have been identified associated with ACS so far. Here, we report a case of prenatal genetic diagnosis...