Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24349
Abstract: Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect at the junction between the lobe and helix, known as a “Question Mark Ear” (QME). Several additional features, originating… read more here.
Keywords: delineation auriculocondylar; auriculocondylar syndrome; syndrome based; novel cases ... See more keywords
Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report
Sign Up to like & getrecommendations! Published in 2021 at "BMC Pregnancy and Childbirth"
DOI: 10.1186/s12884-021-04238-x
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… read more here.
Keywords: auriculocondylar syndrome; acs; case; gnai3 ... See more keywords