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De novo ZIC2 frameshift variant associated with frontonasal dysplasia in a Limousin calf.

Marina BraunAnnika LehmbeckerDeborah EikelbergMaren HelligeAndreas BeinekeJulia MetzgerOttmar Distl
Published in: BMC genomics (2021)
We found a novel ZIC2 frameshift mutation in an aprosencephalic Limousin calf. The origin of this variant is most likely due to a de novo mutation in the germline of one parent or during very early embryonic development. To the authors' best knowledge, this is the first identified mutation in cattle associated with bovine frontonasal dysplasia.
Keyphrases
  • healthcare
  • dna repair
  • oxidative stress