Associated Papers
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Vegas N et al.
Human Mutation, 2022
Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report.
Liu X et al.
Bmc Pregnancy and Childbirth, 2021
A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1.
Yanagi K et al.
Journal of Human Genetics, 2021
Dominant-negative Gα subunits are a mechanism of dysregulated heterotrimeric G protein signaling in human disease.
Marivin A et al.
Science Signaling, 2016
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
Romanelli Tavares VL et al.
European Journal of Human Genetics : Ejhg, 2015
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