A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1
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DOI: 10.1038/s10038-021-00915-z
Abstract: Auriculocondylar syndrome (ARCND) is an autosomal monogenic disorder characterised by external ear abnormalities and micrognathia due to hypoplasia of the mandibular rami, condyle and coronoid process. Genetically, three subtypes of ARCND (ARCND1, ARCND2 and ARCND3)… read more here.
Keywords: guanine nucleotide; nucleotide binding; gnai3; gnai3 gene ... See more keywords