A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum
Angèle Tingaud‐Sequeira, Aurélien Trimouille, Manju Salaria, Rachel Stapleton, Stéphane Claverol, Claudio Plaisant, Marc Bonneu, Estelle Lopez, Benoı̂t Arveiler, Didier Lacombe, Caroline Rooryck
Topics & Concepts
BiologyGeneticsPenetranceMissense mutationGeneGoldenhar syndromeExome sequencingExomeBioinformaticsMutationPhenotypeCraniofacial Disorders and TreatmentsDevelopmental Biology and Gene RegulationOcular Disorders and Treatments