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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| Auteurs principaux: | , , , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
BMC
2021
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| Sujets: | |
| Accès en ligne: | https://doaj.org/article/c2fa9b9572be4ebf84e7b9bbd08a10bf |
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