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

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

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...

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Detalles Bibliográficos
Autores principales: Xiaoliang Liu, Wei Sun, Jun Wang, Guoming Chu, Rong He, Bijun Zhang, Yanyan Zhao
Formato: Artículo
Lenguaje:English
Publicado: BMC 2021-11-01
Colección:BMC Pregnancy and Childbirth
Materias:
Auriculocondylar syndrome
GNAI3
Craniofacial deformity
Prenatal diagnosis
Case report
Acceso en línea:https://doi.org/10.1186/s12884-021-04238-x

Internet

https://doi.org/10.1186/s12884-021-04238-x

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