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An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis.

Edoardo ErrichielloAlessia ArossaAngela IasciRoberta VillaBenedetta IschiaMaria Angela PavesiTommaso RizzutiMaria Francesca BedeschiOrsetta Zuffardi
Published in: Clinical genetics (2020)
Keyphrases
  • copy number
  • genome wide
  • early onset
  • genome wide identification
  • drug induced
  • transcription factor
  • genome wide analysis