Associated Papers
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.
Tingaud-Sequeira A et al.
Journal of Medical Genetics, 2022
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.
Tingaud-Sequeira A et al.
Human Genetics, 2021
MYT1 role in the microtia-craniofacial microsomia spectrum.
Luquetti DV et al.
Molecular Genetics & Genomic Medicine, 2020
A novel de novo mutation in MYT1, the unique OAVS gene identified so far.
Berenguer M et al.
European Journal of Human Genetics : Ejhg, 2017
Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS.
Lopez E et al.
Journal of Medical Genetics, 2016
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