Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS).
Malú ZamariolliMileny ColovatiMariana Moysés-OliveiraNatália NunesLeonardo Caires Dos SantosAna B Alvarez PerezSilvia BragagnoloMaria Isabel MelaragnoPublished in: Molecular genetics & genomic medicine (2019)
Our work described variants in candidate genes for OAVS and supported the genetic heterogeneity of the spectrum.