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...
Enregistré dans:
| Auteurs principaux: | , , , , , , |
|---|---|
| Format: | article |
| Langue: | EN |
| Publié: |
BMC
2021
|
| Sujets: | |
| Accès en ligne: | https://doaj.org/article/c2fa9b9572be4ebf84e7b9bbd08a10bf |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|